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GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been...

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Detalles Bibliográficos
Autores principales:	Iossa, Sandra, Marciano, Elio, Franzé, Annamaria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bentham Science Publishers 2011
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219843/ https://www.ncbi.nlm.nih.gov/pubmed/22547955 http://dx.doi.org/10.2174/138920211797904098

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