Two Iranian Families with a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause autosomal recessive nonsyndromic hearing loss. Only a minority has been assoc...

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Hlavní autoři: Bazazzadegan, Niloofar, Sheffield, Abraham M., Sobhani, Masoomeh, Kahrizi, Kimia, Meyer, Nicole C, Van Camp, Guy, Hilgert, Nele, Abedini, Seyedeh Sedigheh, Habibi, Farkhondeh, Daneshi, Ahmad, Nishimura, Carla, Avenarius, Matthew R., Farhadi, Mohammad, Smith, Richard J.H., Najmabadi, Hossein
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3080436/
https://ncbi.nlm.nih.gov/pubmed/21484990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33209
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