[CHARGE syndrome].
Matsumoto
Tadashi
T
Department of Nursing, Nagasaki University School of Medicine.
Miyahara
Harumi
H
Morifuji
Kanako
K
Sasaki
Noriko
N
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D002754:Choanal Atresia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D004265:DNA Helicases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities; D005835:Genitalia / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D011379:Prognosis
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human