title: A novel 1-bp deletion mutation of the EDA gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.
authors.affiliation: Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
authors.forename: Xiang-Dong
authors.initials: XD
authors.lastname: Kong
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.forename: Hui-Rong
authors.initials: HR
authors.lastname: Shi
authors.forename: Yu-Xia
authors.initials: YX
authors.lastname: Yang
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins