A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.
Hsu
M M L
MM
Chao
S C
SC
Lu
A C H
AC
D000328:Adult; D001483:Base Sequence; D004476:Ectodermal Dysplasia / Q000235:genetics*; D053331:Ectodysplasins; D004814:Epidermal Cyst / Q000235:genetics*; D005148:Facial Dermatoses / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA
C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins