Ontology highlight
ABSTRACT:
SUBMITTER: Van Dijk FS
PROVIDER: S-EPMC2987020 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Van Dijk Fleur S FS Nesbitt Isabel M IM Nikkels Peter G J PG Dalton Ann A Bongers Ernie M H F EM van de Kamp Jiddeke M JM Hilhorst-Hofstee Yvonne Y Den Hollander Nicolette S NS Lachmeijer Augusta M A AM Marcelis Carlo L CL Tan-Sindhunata Gita M B GM van Rijn Rick R RR Meijers-Heijboer Hanne H Cobben Jan M JM Pals Gerard G
European journal of human genetics : EJHG 20090624 12
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 type I genes. CRTAP mutations not described earlier were identified in the affected ind ...[more]