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.
Alvarez
A
A
del Castillo
I
I
Pera
A
A
Villamar
M
M
Moreno-Pelayo
M A
MA
Rivera
T
T
Solanellas
J
J
Moreno
F
F
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*
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26