Osteogenesis imperfecta.
It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the alpha chains of type I collagen. Whilst the increasing biochemical knowledge makes prenatal diagnosis sometimes possible, the care of those with severe physical disability still provides a clinical challenge which is not always met. Future research in this disease therefore needs to be clinical as well as biochemical.
Smith
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D003094:Collagen / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics; D011296:Prenatal Diagnosis; D011379:Prognosis; D011859:Radiography
D003094:Collagen