GJB2 Gene Mutations in Childhood Deafness

The frequency of childhood deafness is estimated at 1:1,000 and at least half of these cases are genetic. Recently, mutations in the GJB2 gene have been found in a great number of familial and sporadic cases of congenital deafness in Caucasians. The most common mutation (70%) is the frameshift mutat...

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Veröffentlicht in:	Acta oto-laryngologica 2000-01, Vol.120 (2), p.133-136
Hauptverfasser:	Angeli, S, Utrera, R, Dib, S, Chiossone, E, Naranjo, C, Henríquez, O, Porta, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Chromosome Aberrations Cochlear Implants Connexin 26 Connexins - genetics Deafness - genetics Deafness - rehabilitation Female Frameshift Mutation - genetics Genes, Dominant - genetics Genes, Recessive - genetics Genetic Testing Humans Male Myosins - genetics
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