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Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family

OBJECTIVE(S): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive non-synd...

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Detalles Bibliográficos
Autores principales: Reiisi, Somayeh, Tabatabaiefar, Mohammad Amin, Sanati, Mohammad Hosein, Chaleshtori, Morteza Hashemzadeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mashhad University of Medical Sciences 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010850/
https://www.ncbi.nlm.nih.gov/pubmed/27635202