Article
Classification of osteogenesis imperfecta.
Wiener medizinische Wochenschrift (1946) - 1 Jul 2015
Fratzl-Zelman Nadja, Misof Barbara M, Roschger Paul, Klaushofer Klaus
Abstract excerpt
Osteogenesis imperfecta (OI) is an extremely heterogeneous group of heritable connective tissue disorders. Most of the affected patients carry autosomal dominant mutations in the genes encoding for collagen type I, the most abundant protein of the bone extracellular matrix. The resulting phenotypes are extremely broad and have been classified by Sillence and colleagues into four groups according to clinical,...
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