Article
A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta.
Genetics and molecular research : GMR - 17 Feb 2009
Barbirato C, Almeida M G, Milanez M, Sipolatti V, Rebouças M R G O, Akel A N, Nunes V R R, Perrone A M S, Zatz M, Louro I D, Paula F
Abstract excerpt
Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility and deformity, recurrent fractures, blue sclera, short stature, and dentinogenesis imperfecta. Most cases are caused by mutations in COL1A1 and COL1A2 genes. We present a novel splicing mutation in the COL1A1 gene (c.1875+1G>C) in a 16-year-old Brazilian boy diagnosed as a type III osteogenesis imperfecta patient. This...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.