MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

Waardenburg syndrome (WS) is a group of rare genetic disorders characterized by hearing loss, changes in coloring of hair, skin, and eyes, and alterations in the shape of the face. Tietz syndrome is another rare disorder which presented similar phenotypes to WS. Patients with Tietz/Waardenburg syndr...

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Detalles Bibliográficos
Autores principales: Yu, Rong, Liu, Lv, Li, Ya-Li, Fan, Liang-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7815406/
https://www.ncbi.nlm.nih.gov/pubmed/33506017
http://dx.doi.org/10.1155/2021/4381272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7815406/
https://www.ncbi.nlm.nih.gov/pubmed/33506017
http://dx.doi.org/10.1155/2021/4381272

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