Associated Papers
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary_Table_1.xlsx › Supp_Table_1A_SOX10-WS
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.
Yu X et al.
Neural Plasticity, 2020
A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.
Chen S et al.
Neural Plasticity, 2020
Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.
Liang F et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
Ma J et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
Fernández RM et al.
American Journal of Medical Genetics. Part A, 2014
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