Hair phenotype in non-syndromic deafness

Abstract 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...

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Veröffentlicht in:	International journal of pediatric otorhinolaryngology 2013-08, Vol.77 (8), p.1280-1285
Hauptverfasser:	Volo, T, Sathiyaseelan, T, Astolfi, L, Guaran, V, Trevisi, P, Emanuelli, E, Martini, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Case-Control Studies Child Child, Preschool Congenital hearing loss Connexin 26 Connexins - genetics Deafness - genetics Deafness - pathology Female Gap junction GJB2 gene Hair - ultrastructure Hair phenotype Humans Infant Male Microscopy, Electron, Scanning Middle Aged Mutation - genetics Non-syndromic hearing loss Otolaryngology Pediatrics Phenotype Young Adult
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