[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].

PubMed 2026 Open access

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Authors: Dingding Liu, Ao Li, Chunjue Yu, Xiaoqiong Ding, Feihu Sun, Xiaoyun Qian, Xia Gao, Guangjie Zhu
DOI: 10.13201/j.issn.2096-7993.2026.03.014
Cited by: 0

Abstract

The heterozygous c.127C>T mutation in SOX10 is the molecular pathological cause of WS4C in this proband. The clinical and genetic characteristics of this family illustrate the genetic heterogeneity and incomplete penetrance of WS4C.

Fields of Study & Subjects

Hearing Cochlea Tinnitus Genetics Congenital Ear and Nasal Anomalies Genetic and rare skin diseases.

Publication details

Journal / source
PubMed
Volume
40
Issue
3
Pages
296–300
Publication date
1 March 2026
Language
ZH