title: A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome.
authors.forename: Kaoru
authors.initials: K
authors.lastname: Murata
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shinkai
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ishikiriyama
authors.forename: Masaaki
authors.initials: M
authors.lastname: Yamazaki
authors.forename: Yasuhito
authors.initials: Y
authors.lastname: Fukuzumi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Hatamochi
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases; D004890:Erythema / Q000235:genetics*; D005260:Female; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D007642:Keratosis / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
chemical_list: D015096:3-Hydroxysteroid Dehydrogenases; D006913:Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human