Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p77 | (1) | ICCBH2013

A novel mutation in CRTAP gene in a patient with severe ostegenesis imperfecta type VII

Vuorimies Ilkka , Pekkinen Minna , Becker Jutta , Valta Helena , Netzer Christian , Makitie Outi

Background: Osteogenesis imperfecta (OI) is a genetic disorder with low bone mass and bone fragility. Type VII OI is one of the autosomal recessive subtypes and clinically moderate to lethal. It is caused by mutations in the cartilage associated protein (CRTAP) gene. Currently <20 mutations are known.Case description: An 11-year-old Iraqi female was referred to our hospital after immigration to Finland. She had suffered numerous peripheral a...