High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing
ObjectiveThis study aimed to explore the genetic causes of probands who were diagnosed with Waardenburg syndrome (WS) or congenital sensorineural hearing loss.MethodsA detailed physical and audiological examinations were carried out to make an accurate diagnosis of 14 patients from seven unrelated f...
Main Authors: | Sen Zhang, Hongen Xu, Yongan Tian, Danhua Liu, Xinyue Hou, Beiping Zeng, Bei Chen, Huanfei Liu, Ruijun Li, Xiaohua Li, Bin Zuo, Ryan Tang, Wenxue Tang |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2021-06-01
|
Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.643546/full |
Similar Items
-
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
by: Safoura Zardadi, et al.
Published: (2021-02-01) -
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next‐generation sequencing
by: Chen‐Yu Lee, et al.
Published: (2022-12-01) -
Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
by: Shumin Ren, et al.
Published: (2020-03-01) -
Detección de mutaciones en los genes PAX3 y MITF en pacientes colombianos con Síndrome Waardenburg
by: N. Gélvez, et al.
Published: (2001-07-01) -
Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
by: Yongbo Yu, et al.
Published: (2020-05-01)