[Rud syndrome].
Kuniba
Hideo
H
Department of Pediatrics, Nagasaki University School of Medicine.
Egashira
Masanori
M
Motomura
Hideki
H
Motomura
Katsuaki
K
Kondoh
Tatsuro
T
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
D043266:Steryl-Sulfatase