title: A novel mutation in the ED1 gene in a patient with X-linked hypohidrotic ectodermal dysplasia.
authors: Department of Neurology, Neurogenetic Unit, Poznań Department of Genetics, Medical University, Wrocław, Poland.
authors: Alicja
authors: A
authors: Wawrzynek
authors: Ryszard
authors: R
authors: Slęzak
authors: Slawomir A
authors: SA
authors: Wiśniewski
authors: Wieslaw H
authors: WH
authors: Trzeciak
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D003198:Computer Simulation; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D015398:Signal Transduction / Q000235:genetics
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins