Article
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.
PloS one - 1 Jan 2013
Gandía Marta, Del Castillo Francisco J, Rodríguez-Álvarez Francisco J, Garrido Gema, Villamar Manuela, Calderón Manuela, Moreno-Pelayo Miguel A, Moreno Felipe, del Castillo Ignacio
Abstract excerpt
The DFNB1 subtype of autosomal recessive, nonsyndromic hearing impairment, caused by mutations affecting the GJB2 (connexin-26) [corrected] gene, is highly prevalent in most populations worldwide. DFNB1 hearing impairment is mostly severe or profound and usually appears before the acquisition of speech (prelingual onset), though a small number of hypomorphic missense mutations result in mild or moderate deafness...
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