A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4

Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A–C)...

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Detalles Bibliográficos
Autores principales: Wang, Xiong, Zhu, Yaowu, Shen, Na, Peng, Jing, Wang, Chunyu, Liu, Haiyi, Lu, Yanjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5269737/
https://www.ncbi.nlm.nih.gov/pubmed/28128317
http://dx.doi.org/10.1038/srep41513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5269737/
https://www.ncbi.nlm.nih.gov/pubmed/28128317
http://dx.doi.org/10.1038/srep41513

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