title: Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family.
authors.affiliation: Division of Dermatology, Kawasaki Municipal Hospital, Kawasaki, Kanagawa, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Kurihara
authors.forename: Ryota
authors.initials: R
authors.lastname: Hayashi
authors.forename: Emiko
authors.initials: E
authors.lastname: Watanabe
authors.forename: Shun-ichi
authors.initials: S
authors.lastname: Miyakawa
authors.forename: Kumiko
authors.initials: K
authors.lastname: Kajiwara
authors.forename: Maiko
authors.initials: M
authors.lastname: Matsuda
authors.forename: Kazue
authors.initials: K
authors.lastname: Yoshida
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Shimomura
authors.forename: Hironori
authors.initials: H
authors.lastname: Niizeki
mesh_terms: D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins