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1
Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability.
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Yayıncı :
American Journal of Medical Genetics. Part a
Yazar(lar) :
Alessandra Renieri , Joussef Hayek , Ron A Wevers , Udo Engelke , Francesca Mari , Sabrina Buoni , Lucia Monti , Marco Fichera , Michele Falco , Marco Calderisi , Antonio Vivi , Marzia Pollazzon , Maria Tassini , Maria Antonietta Mencarelli
Yıl :
2011
American Journal of Medical Genetics. Part a
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This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID). Diagnosis cannot be established on clinical grounds and is often based on the assessment of brain creatine levels by magnetic resonance spectroscopy (MRS). Considering high costs of MRS and necessity of sedation, this technique cannot be used as a first level-screening test. Likewise, gene test analysis is time consuming and not easily accessible to all laboratories. In this article feasibility of urine analysis (creatine/creatinine (Cr/Crn) ratio) performed by nuclear magnetic resonance (NMR) as a first level-screening test is explored. Before running a systematic selection of cases a preliminary study for further molecular analysis is shown. NMR urine spectra (n = 1,347) of male patients with an ID without a clinically recognizable syndrome were measured. On the basis of abnormal Cr/Crn ratio, three patients with the highest values were selected for molecular analysis. A confirmatory second urine test was positive in two patients and diagnosis was further confirmed by a decreased brain creatine level and by SLC6A8 gene analysis. A de novo mutation was identified in one. Another patient inherited a novel mutation from the mother who also has a mild ID. A repeat urine test was negative in the third patient and accordingly creatine level in the brain and SLC6A8 gene analysis both gave a normal result. We conclude that Cr/Crn ratio measured by NMR for male patients represents a rapid and useful first level screening test preceding molecular analysis. © 2011 Wiley-Liss, Inc.
DOI : doi:10.1002/ajmg.a.34208
Cilt :155
ISSN :1552-4825
Sınıflandırma :
2
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
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American Journal of Medical Genetics. Part a
Yazar(lar) :
Shamima Rahman , Keith R Sibson , Keith J Lindley , Maureen A Cleary , Yehani Wedatilake , Rojeen Shahni
Yıl :
2013
American Journal of Medical Genetics. Part a
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This article is from American Journal of Medical Genetics. Part a, volume 161. Abstract Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein synthesis as well as ribosome recycling. We report on a new case of myopathy, lactic acidosis and sideroblastic anemia (MLASA) syndrome caused by defective mitochondrial tyrosyl aminoacylation. The patient presented at 1 year with anemia initially attributed to iron deficiency. Bone marrow aspirate at 5 years revealed ringed sideroblasts but transfusion dependency did not occur until 11 years. Other clinical features included lactic acidosis, poor weight gain, hypertrophic cardiomyopathy and severe myopathy leading to respiratory failure necessitating ventilatory support. Long-range PCR excluded mitochondrial DNA rearrangements. Clinical diagnosis of MLASA prompted direct sequence analysis of the YARS2 gene encoding the mitochondrial tyrosyl-tRNA synthetase, which revealed homozygosity for a known pathogenic mutation, c.156C>G;p.F52L. Comparison with four previously reported cases demonstrated remarkable clinical homogeneity. First line investigation of MLASA should include direct sequence analysis of YARS2 and PUS1 (encoding a tRNA modification factor) rather than muscle biopsy. Early genetic diagnosis is essential for counseling and to facilitate appropriate supportive therapy. Reasons for segregation of specific clinical phenotypes with particular mitochondrial aminoacyl tRNA-synthetase defects remain unknown. © 2013 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.36065
Cilt :161
ISSN :1552-4825
Sınıflandırma :
3
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision.
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Yayıncı :
American Journal of Medical Genetics. Part a
Yazar(lar) :
Andrea Superti-Furga , Bernhard Zabel , Sheila Unger , Juergen Spranger , David Sillence , Ravi Savarirayan , Stephen Robertson , David L Rimoin , Gen Nishimura , Stefan Mundlos , Geert Mortier , Martine LeMerrer , Ralph Lachman , Deborah Krakow , Christine Hall , Valerie Cormier-Daire , Matthew L Warman
Yıl :
2011
American Journal of Medical Genetics. Part a
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This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to “private” found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.
DOI : doi:10.1002/ajmg.a.33909
Cilt :155
ISSN :1552-4825
Sınıflandırma :
4
A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss.
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Yayıncı :
American Journal of Medical Genetics. Part a
Yazar(lar) :
Samantha JL Knight , Andrew P Jackson , David A Keays , Jenny C Taylor , Usha Kini , Helen Stewart , Kaseem Ajilogba , Louise S Bicknell , Victoria Harrison , Elham Sadighi Akha , Grace Yoon , Jennie E Murray , Alistair T Pagnamenta
Yıl :
2012
American Journal of Medical Genetics. Part a
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This article is from American Journal of Medical Genetics. Part a, volume 158A. Abstract Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (−3 SDS or more) and mild-to-moderate learning disability. Here, we describe clinical and molecular investigations of a microcephalic child with sensorineural hearing loss. Although consanguinity was unreported initially, detection of 13.7 Mb of copy neutral loss of heterozygosity (cnLOH) on chromosome 9 implicated the CDK5RAP2 gene. Targeted sequencing identified a homozygous E234X mutation, only the third mutation to be described in CDK5RAP2, the first in an individual of non-Pakistani descent. Sensorineural hearing loss is not generally considered to be consistent with autosomal recessive microcephaly and therefore it seems likely that the deafness in this individual is caused by the co-occurrence of a further gene mutation, independent of CDK5RAP2. Nevertheless, further detailed clinical descriptions of rare CDK5RAP2 patients, including hearing assessments will be needed to resolve fully the phenotypic range associated with mutations in this gene. This study also highlights the utility of SNP-array testing to guide disease gene identification where an autosomal recessive condition is plausible. © 2012 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.35558
Cilt :158A
ISSN :1552-4825
Sınıflandırma :
5
Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying Novel PSAP Gene Mutations.
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American Journal of Medical Genetics. Part a
Yazar(lar) :
Klaus Harzer , Barbara C Paton , Ingeborg Krageloh-Mann , Martin Staudt , Heidi Mayrhofer , Margret Petermoller , Milan Elleder , Befekadu Asfaw , Petr Chrastina , Linda Berna , Lenka Dvorakova , Helena Myskova , Martin Hrebicek , Jana Ledvinova , Ladislav Kuchar
Yıl :
2009
American Journal of Medical Genetics. Part a
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This article is from American Journal of Medical Genetics. Part a, volume 149A. Abstract Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65–70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A–D. We report on two new patients with PSAP gene defects; one, with pSap-d, who had a severe neurovisceral dystrophy and died as a neonate, and the other with SapB-d, who presented with a metachromatic leukodystrophy-like disorder but had normal arylsulfatase activity. Screening for urinary sphingolipids was crucial to the diagnosis of both patients, with electrospray ionization tandem mass spectrometry also providing quantification. The pSap-d patient is the first case with this condition where urinary sphingolipids have been investigated. Multiple sphingolipids were elevated, with globotriaosylceramide showing the greatest increase. Both patients had novel mutations in the PSAP gene. The pSap-d patient was homozygous for a splice-acceptor site mutation two bases upstream of exon 10. This mutation led to a premature stop codon and yielded low levels of transcript. The SapB-d patient was a compound heterozygote with a splice-acceptor site variant exclusively affecting the SapB domain on one allele, and a 2 bp deletion leading to a null, that is, pSap-d mutation, on the other allele. Phenotypically, pSap-d is a relatively uniform disease of the neonate, whereas SapB-d is heterogeneous with a spectrum similar to that in metachromatic leukodystrophy. The possible existence of genotypes and phenotypes intermediate between those of pSap-d and the single saposin deficiencies is speculated. © 2009 Wiley-Liss, Inc.
DOI : doi:10.1002/ajmg.a.32712
Cilt :149A
ISSN :1552-4825
Sınıflandırma :
6
Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes.
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Yayıncı :
American Journal of Medical Genetics. Part a
Yazar(lar) :
Alessandro Terrinoni , Gerry Melino , Laura Bui , Mauro Paradisi , Marco Castori , Valeria Serra
Yıl :
2011
American Journal of Medical Genetics. Part a
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This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is inconsistent. This suggests an appreciable phenotypic continuity within the TP63-related disorders. We report a 3-month-old boy ascertained for congenital scalp erosion and mild features of ectodermal dysplasia. His mother showed full-blown characteristics of Rapp-Hodgkin syndrome plus intense abdominal and popliteal freckling. Molecular investigation identified the novel TP63 mutation c.1697delG. We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively. These results demonstrated complex behavior of c.1697delG in the TA of genes involved in epidermal differentiation and development and shed further light in the physiopathology of TP63-related disorders. © 2011 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.34335
Cilt :155
ISSN :1552-4825
Sınıflandırma :
7
New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect.
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Yayıncı :
American Journal of Medical Genetics. Part a
Yazar(lar) :
Joseph G Gleeson , Shifteh Sattar , Mahmoud Y Issa , William B Dobyns , Sahar N Saleem , Ghada M H Abdel Salam , Maha S Zaki
Yıl :
2011
American Journal of Medical Genetics. Part a
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This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance. © 2011 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.34078
Cilt :155
ISSN :1552-4825
Sınıflandırma :
8
Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Asuman Koparir , Omer Faruk Karatas , Seda Salman Yilmaz , Ilknur Suer , Bugra Ozer , Betul Yuceturk , Mustafa Ozen
Konu :
Genetics(clinical), Genetics
Yıl :
2019
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.61065
ISSN: 1552-4825
Sayı: 4
Cilt: 179
Sayfa: 579-587
9
Publication schedule for 2016
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Wiley Online Library
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American Journal of Medical Genetics Part A
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37310
ISSN: 1552-4825
Sayı: 4
Cilt: 170
Sayfa: 820-820
10
A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization
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Kaynak :
Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Zuhair N. Al-Hassnan , AlBandary Al-Bakheet , Nada Abu-Dheim , Banan Al-Younes , Dilek Colak , Namik Kaya
Yıl :
2011
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.34298
ISSN: 1552-4825
Sayı: 12
Cilt: 155
Sayfa: 3128-3131
11
Ablepharon-Macrostomia syndrome-Extension of the phenotype
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Staci Kallish , Donna M. McDonald-McGinn , Mieke M. van Haelst , Scott P. Bartlett , James A. Katowitz , Elaine H. Zackai
Yıl :
2011
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.34287
ISSN: 1552-4825
Sayı: 12
Cilt: 155
Sayfa: 3060-3062
12
Congenital limb deficiency classification and nomenclature: The need for a consensus
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Dergi Makalesi
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Robert Brian Lowry , Tanya Bedard
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37608
ISSN: 1552-4825
Sayı: 6
Cilt: 170
Sayfa: 1400-1404
13
Identification of a novel insertion mutation inFGFR3that causes thanatophoric dysplasia type 1
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Amanda S. Lindy , Monica J. Basehore , Mumingjiang Munisha , Aimee Leanne Williams , Michael J. Friez , Karin Writzl , Patrick Willems , Scott T. Dougan
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37609
ISSN: 1552-4825
Sayı: 6
Cilt: 170
Sayfa: 1573-1579
14
American Journal of Medical Genetics Part A: Volume 155, Number 11, November 2011
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American Journal of Medical Genetics Part A
Yıl :
2011
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.34365
ISSN: 1552-4825
Sayı: 11
Cilt: 155
Sayfa: C1-C1
15
Table of Contents, Volume 170A, Number 5, May 2016
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American Journal of Medical Genetics Part A
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37312
ISSN: 1552-4825
Sayı: 5
Cilt: 170
Sayfa: 1105-1109
16
Table of Contents, Volume 179A, Number 4, April 2019
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Konu :
Genetics(clinical), Genetics
Yıl :
2019
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.40442
ISSN: 1552-4825
Sayı: 4
Cilt: 179
Sayfa: 513-516
17
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation inFIBPgene
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Nadia Akawi , Salma Ben-Salem , Laura Lahti , Juha Partanen , Bassam R. Ali , Lihadh Al-Gazali
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37741
ISSN: 1552-4825
Sayı: 8
Cilt: 170
Sayfa: 2111-2118
18
The natural history of a clinical geneticist
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Dergi Makalesi
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Małgorzata J. Nowaczyk
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37732
ISSN: 1552-4825
Sayı: 10
Cilt: 170
Sayfa: 2591-2593
19
0
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American Journal of Medical Genetics Part A
Yıl :
2012
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.v158a.1
ISSN: 1552-4825
Sayı: 1
Cilt: 158A

20
Achondroplasia: Really rhizomelic?
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Dergi Makalesi
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Susan Cheng Shelmerdine , Helen Brittain , Owen J. Arthurs , Alistair D. Calder
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37776
ISSN: 1552-4825
Sayı: 8
Cilt: 170
Sayfa: 2039-2043
21
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Kathrin Blaesius , Ansar A. Abbasi , Tufail H. Tahir , Anna Tietze , Sylvie Picker-Minh , Ghazanfar Ali , Sundas Farooq , Hao Hu , Zahid Latif , Muhammad N. Khan , Angela Kaindl
Yıl :
2018
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.38631
ISSN: 1552-4825
Sayı: 11
Cilt: 176
Sayfa: 2517-2521
22
Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome
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Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Yanick J. Crow , R.F. Massey , J.R. Innes , P.W. Pairaudeau , C.A. Rowland Hill , C.G. Woods , M. Ali , J.H. Livingston , P. Lebon , K. Nischall , M. McEntagart , N. Hindocha , R.M. Winter
Yıl :
2004
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.30250
ISSN: 1552-4825
Sayı: 3
Cilt: 129A
Sayfa: 303-307
23
Restrictive dermatopathy: A lethal congenital dermatosis and review of literature
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Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
M.L. Kulkarni , K. Sudarshan Shetty , V.K. Chandrasekar , M. Preethi Kulkarni
Yıl :
2006
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.20264
ISSN: 1552-4825
Sayı: 3
Cilt: 140A
Sayfa: 294-297
24
Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Chumei Li , Yongdong Wang , Marta Szybowska
Yıl :
2017
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.38201
ISSN: 1552-4825
Sayı: 7
Cilt: 173
Sayfa: 1994-1995
25
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability
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Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Ante Karoglan , Denny Schanze , Claudia Bär , Petra Muschke , Martin Zenker , Ina Schanze
Konu :
Genetics(clinical), Genetics
Yıl :
2019
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.61093
ISSN: 1552-4825
Sayı: 5
Cilt: 179
Sayfa: 832-836
26
Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?
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Wiley Online Library
Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Roelof-Jan Oostra , Mario Maas
Yıl :
2006
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.31418
ISSN: 1552-4825
Sayı: 19
Cilt: 140A
Sayfa: 2135-2138
27
Behavioral and temperamental features of children with Costello syndrome
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Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Cédric Galéra , Marie-Ange Delrue , Cyril Goizet , Kattalin Etchegoyhen , Emmanuelle Taupiac , Sabine Sigaudy , Benoît Arveiler , Nicole Philip , Manuel Bouvard , Didier Lacombe
Yıl :
2006
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.31169
ISSN: 1552-4825
Sayı: 9
Cilt: 140A
Sayfa: 968-974
28
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations
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Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Roee Birnbaum , Naama Yosha-Orpaz , Miri Yanoov-Sharav , Dvora Kidron , Hila Gur , Keren Yosovich , Tally Lerman-Sagie , Gustavo Malinger , Dorit Lev
Konu :
Genetics(clinical), Genetics
Yıl :
2018
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.6
ISSN: 1552-4825
Sayı: 1
Cilt: 179
Sayfa: 78-84
29
A further family of Stromme syndrome carrying CENPF mutation
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Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
Ferda Ozkinay , Tahir Atik , Esra Isik , Zeliha Gormez , Mahmut Sagiroglu , Ozlem Atan Sahin , Nergul Corduk , Huseyin Onay
Yıl :
2017
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.38173
ISSN: 1552-4825
Sayı: 6
Cilt: 173
Sayfa: 1668-1672
30
M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018)
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Yayıncı :
American Journal of Medical Genetics Part A
Yazar(lar) :
John C. Carey , Raoul C. M. Hennekam , Angela E. Lin , Mason Barr
Konu :
Genetics(clinical), Genetics
Yıl :
2018
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.38845
ISSN: 1552-4825
Sayı: 8
Cilt: 176
Sayfa: 1703-1705

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