title: Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.
authors: Reference Center for Rare Skin Disease, CHU Larrey, Paul Sabatier University, Toulouse, France. mazereeuw-hautier.j@chu-toulouse.fr.
authors: Juliette
authors: J
authors: Mazereeuw-Hautier
authors: Christine
authors: C
authors: Chiaverini
authors: Nathalie
authors: N
authors: Jonca
authors: Eric
authors: E
authors: Bieth
authors: Isabelle
authors: I
authors: Dreyfus
authors: Aude
authors: A
authors: Maza
authors: Nathalie
authors: N
authors: Cardot-Leccia
authors: Christophe
authors: C
authors: Perrin
authors: Jean-Philippe
authors: JP
authors: Lacour
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005091:Exons; D017809:Fatal Outcome; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D007634:Keratitis / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26