[Short-limbed dwarfism with immunodeficiency, cartilage-hair hypoplasia, metaphyseal chondrodysplasia, Gutti-Lux syndrome].
Tsuchiya
S
S
Department of Pediatric Oncology, Research Institute of Development, Aging and Cancer, Tohoku University.
D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000209:etiology; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000209:etiology; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000209:etiology; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000209:etiology; D011379:Prognosis; D013577:Syndrome