De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II
Author:
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health
Reference16 articles.
1. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV;Morín;Am. J. Med. Genet. A,2008
2. Waardenburg syndrome type 2 in an African patient;Otman;Indian J. Dermatol. Venereol. Leprol.,2005
3. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria;Liu;Am. J. Med. Genet.,1995
4. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene;Tassabehji;Nat. Genet.,1994
5. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am. J. Hum. Genet.,2007
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1. Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report;Journal of Medical Case Reports;2022-07-06
2. Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant;PLOS ONE;2021-02-11
3. Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome;International Journal of Pediatric Otorhinolaryngology;2020-09
4. Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10;Neural Plasticity;2020-08-28
5. A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II;Neural Plasticity;2020-08-28
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