Associated Papers
[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].
Liu D et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2026
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Li X et al.
Human Genetics, 2023
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S et al.
Bmc Medical Genomics, 2022
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Wang G et al.
Human Genetics, 2022
A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.
Ma J et al.
Molecular Medicine Reports, 2019
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].
Zheng L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
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
Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.
Arimoto Y et al.
Gene, 2014
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2013
Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene.
Oshimo T et al.
The Journal of Dermatology, 2012
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
Zhang H et al.
Human Genetics, 2012
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
Jiang L et al.
Biochemical and Biophysical Research Communications, 2011
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
Chen H et al.
Biochemical and Biophysical Research Communications, 2010
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
Viñuela A et al.
American Journal of Medical Genetics. Part A, 2009
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Morín M et al.
American Journal of Medical Genetics. Part A, 2008
A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.
Qin W et al.
Molecular Vision, 2006
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Inoue K et al.
Nature Genetics, 2004
Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation.
Chan KK et al.
Journal of Cellular Biochemistry, 2003
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
Pingault V et al.
Human Genetics, 2002