[Camptomelic dysplasia].
Tonoki
H
H
Department of Pediatrics, Chitose Municipal Hospital.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D001842:Bone and Bones / Q000002:abnormalities; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011379:Prognosis; D055758:SOX9 Transcription Factor; D013577:Syndrome; D013796:Thanatophoric Dysplasia / Q000235:genetics / Q000503:physiopathology; D014157:Transcription Factors / Q000235:genetics
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors