Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

Myosin VIIA mutations have been associated with non-syndromic hearing loss (DFNB2; DFNA11) and Usher syndrome type 1B (USH1B). We report clinical and genetic analyzes of a consanguineous Iranian family segregating autosomal recessive non-syndromic hearing loss (ARNSHL). The hearing impairment was ma...

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Main Authors: Hildebrand, Michael S., Thorne, Natalie P., Bromhead, Catherine J., Kahrizi, Kimia, Webster, Jennifer A., Fattahi, Zohreh, Bataejad, Mojgan, Kimberling, William J., Stephan, Dietrich, Najmabadi, Hossein, Bahlo, Melanie, Smith, Richard J.H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2891191/
https://ncbi.nlm.nih.gov/pubmed/20132242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2009.01344.x
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