A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene

BACKGROUND: Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell‐derived melanocytes. At present, four subtyp...

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Detalles Bibliográficos
Autores principales: Yang, Shuzhi, Wang, Cuicui, Zhou, Chengyong, Kang, DongYang, Zhang, Xin, Yuan, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767564/
https://www.ncbi.nlm.nih.gov/pubmed/33045145
http://dx.doi.org/10.1002/mgg3.1520

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767564/
https://www.ncbi.nlm.nih.gov/pubmed/33045145
http://dx.doi.org/10.1002/mgg3.1520

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