A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.
Messenger
Andrew G
AG
Bazzi
Hisham
H
Parslew
Richard
R
Shapiro
Lawrence
L
Christiano
Angela M
AM
D000595:Amino Acid Sequence; D015820:Cadherins / Q000737:chemistry / Q000235:genetics; D002675:Child, Preschool; D051182:Desmogleins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D011487:Protein Conformation
D015820:Cadherins; C473409:DSG4 protein, human; D051182:Desmogleins