title: A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.
authors.forename: M M L
authors.initials: MM
authors.lastname: Hsu
authors.forename: S C
authors.initials: SC
authors.lastname: Chao
authors.forename: A C H
authors.initials: AC
authors.lastname: Lu
mesh_terms: 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
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins