title: De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.
authors.forename: Araceli
authors.initials: A
authors.lastname: Alvarez
authors.forename: Ignacio
authors.initials: I
authors.lastname: del Castillo
authors.forename: Alejandra
authors.initials: A
authors.lastname: Pera
authors.forename: Manuela
authors.initials: M
authors.lastname: Villamar
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: Felipe
authors.initials: F
authors.lastname: Moreno
authors.forename: Ramón
authors.initials: R
authors.lastname: Moreno
authors.forename: M Cruz
authors.initials: MC
authors.lastname: Tapia
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D007634:Keratitis / Q000473:pathology*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA