[Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene].
This paper reports the first case of cochlear implantation performed in this country in a child with congenital non-syndromic sensorineural loss of hearing having hereditary etiology and attributable to autosomal-recessive 35 delG mutation in locus DFNB1 (13q.11-q12) of GJB2 (connexin 26) gene.
Teriutin
F M
FM
Barashkov
N A
NA
Dzhemileva
L U
LU
Posukh
O L
OL
Fedotova
E E
EE
Gurinova
E E
EE
Fedorova
S A
SA
Tavartkiladze
G A
GA
Khusnutdinova
E K
EK
D002675:Child, Preschool; D019929:Cochlear Implantation / Q000379:methods*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics / Q000601:surgery*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA