A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II

Niu, ZJ; Lai, YJ; Tan, SH; Tang, F; Tang, XL; Su, YP; Liu, L; Xie, LH; Fang, Q; Xie, M; Tang, AZ

Tang, AZ (corresponding author), Guangxi Med Univ, Dept Otolaryngol Head & Neck Surg, Affiliated Hosp 1, 6 Shuangyong Rd Nanning Guangxi, Nanning 530021, Peoples R China.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 145 ():

Abstract

Objective: Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic irides or blue eyes and sensorineural hea......

Full Text Link