title: The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
authors.forename: Delphine
authors.initials: D
authors.lastname: Feldmann
authors.forename: Françoise
authors.initials: F
authors.lastname: Denoyelle
authors.forename: Hélène
authors.initials: H
authors.lastname: Blons
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Natalie
authors.initials: N
authors.lastname: Loundon
authors.forename: Isabelle
authors.initials: I
authors.lastname: Rouillon
authors.forename: Smail
authors.initials: S
authors.lastname: Hadj-Rabia
authors.forename: Christine
authors.initials: C
authors.lastname: Petit
authors.forename: Rémy
authors.initials: R
authors.lastname: Couderc
authors.forename: Eréa-Noel
authors.initials: EN
authors.lastname: Garabédian
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marlin
mesh_terms: 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
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26