title: [Rud syndrome].
authors.affiliation: Department of Pediatrics, Nagasaki University School of Medicine.
authors.forename: Hideo
authors.initials: H
authors.lastname: Kuniba
authors.forename: Masanori
authors.initials: M
authors.lastname: Egashira
authors.forename: Hideki
authors.initials: H
authors.lastname: Motomura
authors.forename: Katsuaki
authors.initials: K
authors.lastname: Motomura
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
mesh_terms: D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D010857:Pigment Epithelium of Eye / Q000002:abnormalities*; D011379:Prognosis; D043266:Steryl-Sulfatase / Q000235:genetics; D013577:Syndrome
chemical_list: D043266:Steryl-Sulfatase