Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss.
Yan
Denise
D
Department of Otolaryngology, University of Miami, Miami, Florida 33136, USA.
Ouyang
Xiao Mei
XM
Angeli
Simon I
SI
Du
Li Lin
LL
Liu
Xue Zong
XZ
D002882:Chromosomes, Human, Pair 13; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D034381:Hearing Loss / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D017384:Sequence Deletion; D024182:Uniparental Disomy
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26