Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. Here, we recruited three Chinese families affected with autosomal recessive USH for detailed clinical evaluations and for mutation screeni...

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Detalles Bibliográficos
Autores principales: Rong, Weining, Chen, Xue, Zhao, Kanxing, Liu, Yani, Liu, Xiaoxing, Ha, Shaoping, Liu, Wenzhou, Kang, Xiaoli, Sheng, Xunlun, Zhao, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022727/
https://www.ncbi.nlm.nih.gov/pubmed/24831256
http://dx.doi.org/10.1371/journal.pone.0097808

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