Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

BACKGROUND: Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families. METHOD...

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Detalles Bibliográficos
Autores principales: Ren, Shumin, Chen, Xiaojie, Kong, Xiangdong, Chen, Yibing, Wu, Qinghua, Jiao, Zhihui, Shi, Huirong
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/PMC7057110/
https://www.ncbi.nlm.nih.gov/pubmed/31960627
http://dx.doi.org/10.1002/mgg3.1128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057110/
https://www.ncbi.nlm.nih.gov/pubmed/31960627
http://dx.doi.org/10.1002/mgg3.1128

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