The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
Feldmann
Delphine
D
Denoyelle
Françoise
F
Blons
Hélène
H
Lyonnet
Stanislas
S
Loundon
Natalie
N
Rouillon
Isabelle
I
Hadj-Rabia
Smail
S
Petit
Christine
C
Couderc
Rémy
R
Garabédian
Eréa-Noel
EN
Marlin
Sandrine
S
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001299:Audiometry; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D013577:Syndrome
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26