title: Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.
authors.forename: A
authors.initials: A
authors.lastname: Alvarez
authors.forename: I
authors.initials: I
authors.lastname: del Castillo
authors.forename: A
authors.initials: A
authors.lastname: Pera
authors.forename: M
authors.initials: M
authors.lastname: Villamar
authors.forename: M A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: T
authors.initials: T
authors.lastname: Rivera
authors.forename: J
authors.initials: J
authors.lastname: Solanellas
authors.forename: F
authors.initials: F
authors.lastname: Moreno
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D017384:Sequence Deletion / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26