Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II

BACKGROUND: Waardenburg syndrome (WS) is a rare autosomal‐dominant syndrome and is characterized by sensorineural hearing loss and pigment abnormalities. It is subdivided into four types according to the clinical characteristics. MITF is one of the major pathogenic genes for type II. The aim of this...

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Detalles Bibliográficos
Autores principales: Wang, Jing, Lu, Yu, Yan, Xiaohong, Shen, Tian, Li, Linke, Rao, Yufang, Tan, Bo, Xiong, Wenyu, Cheng, Jing, Zhao, Yu, Yuan, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457691/
https://www.ncbi.nlm.nih.gov/pubmed/34323021
http://dx.doi.org/10.1002/mgg3.1770

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457691/
https://www.ncbi.nlm.nih.gov/pubmed/34323021
http://dx.doi.org/10.1002/mgg3.1770

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