Article
Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.
The Annals of otology, rhinology, and laryngology - 1 Jul 2004
Stinckens Christel, Kremer Hannie, van Wijk Erwin, Hoefsloot Lies H, Huygen Patrick L M, Standaert Lieve, Fryns Jean Pierre, Cremers Cor W R J
Abstract excerpt
In 15 Belgian subjects with prelingual sensorineural hearing impairment, the connexin 26 (GJB2) gene and the connexin 30 (GJB6) gene were analyzed for the presence of the 35delG mutation and the delta(GJB6-D13S1830) deletion first described by del Castillo et al in 2002. Seven patients were found to be homozygous for the 35delG mutation; 7 were combined heterozygotes for the 35delG mutation and the GJB6 deletion....
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