Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
European journal of human genetics : EJHG - 1 Dec 2009
Van Dijk Fleur S, Nesbitt Isabel M, Nikkels Peter G J, Dalton Ann, Bongers Ernie M H F, van de Kamp Jiddeke M, Hilhorst-Hofstee Yvonne, Den Hollander Nicolette S, Lachmeijer Augusta M A, Marcelis Carlo L, Tan-Sindhunata Gita M B, van Rijn Rick R, Meijers-Heijboer Hanne, Cobben Jan M, Pals Gerard
Abstract excerpt
Autosomal recessive lethal and severe osteogenesis imperfecta (OI) is caused by the deficiency of cartilage-associated protein (CRTAP) and prolyl-3-hydroxylase 1 (P3H1) because of CRTAP and LEPRE1 mutations. We analyzed five families in which 10 individuals had a clinical diagnosis of lethal and severe OI with an overmodification of collagen type I on biochemical testing and without a mutation in the collagen...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.