Article
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations.
Bone - 1 Mar 2014
Fratzl-Zelman Nadja, Schmidt Ingo, Roschger Paul, Glorieux Francis H, Klaushofer Klaus, Fratzl Peter, Rauch Frank, Wagermaier Wolfgang
Abstract excerpt
Osteogenesis imperfecta (OI) type I represents the mildest form of OI and is usually caused by two classes of autosomal dominant mutations in collagen type I: haploinsufficiency leading to a reduced quantity of structurally normal collagen (quantitative mutation), or sequence abnormalities generating structurally aberrant collagen chains (qualitative mutation). An abnormally high bone matrix mineralization has...
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