期刊论文

Mei, Lingyun;Feng, Yong

英文

Gene Therapy

0969-7128

2022

29

9

479-497

10.1038/s41434-021-00240-2

This work was supported by the National Natural Science Foundation of China (No.81700923,81771023 and 81873705). We also thank LetPub for its linguistic assistance during the preparation of this manuscript.

本校为通讯机构

Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for approximately 2–5% of all patients with congenital hearing loss. WS is classified into four subtypes depending on the clinical phenotypes. Currently, pathogenic mutations of PAX3, MITF, SOX10, EDN3, EDNRB or SNAI2 are associated with different subtypes of WS. Although supportive techniques like hearing aids, cochlear implants, or other assistive listening devices can alleviate the HL symptom, there ...