Article
[Prenatal and neonatal diagnosis of osteogenesis imperfecta in obstetrical practice].
Ginekologia polska - 1 Jun 2001
Leśniewicz R, Galicka A, Anchim T, Skotnicki M, Wołczyński S, Urban J
Abstract excerpt
Osteogenesis imperfecta (OI types I, II, III, IV) is a heterogeneous group of genetically disorders of connective tissue. Quantitative or qualitative abnormalities of type I collagen form pathogenetical basis of the disease. They are caused by mutations in genes encoding collagen proteins or enzymes involved in collagen biosynthesis. The clinical features of each type usually correspond to the type of mutation....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.