Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.
Shimomura
Yutaka
Y
Wajid
Muhammad
M
Kurban
Mazen
M
Sato
Nobuyuki
N
Christiano
Angela M
AM
D000595:Amino Acid Sequence; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D053564:Keratins, Hair-Specific / Q000235:genetics*; D053531:Keratins, Type II / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009260:Nail Diseases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
C507604:KRT85 protein, human; D053564:Keratins, Hair-Specific; D053531:Keratins, Type II