Searchable abstracts of presentations at key conferences in endocrinology

ea0031p13 | Bone | SFEBES2013

Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene manifesting clinically as osteogenesis imperfecta

Owen Nina , Reddy Narendra , Aftab Saboor AS , Harte Alison L , McTernan Philip G , Tripathi Gyanendra , Barber Thomas M

Introduction: Osteogenesis imperfecta (OI) is a rare, heterogeneous, genetic connective tissue disorder that manifests clinically as bone fragility, brittleness and growth disorder. Effective diagnosis is important (although often challenging) to enable institution of early and effective multidisciplinary management.The case: A 19-year-old woman was referred to the Endocrine clinic at the Warwickshire Institute for the Study of Diabetes, Endocrinology an...