Article
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
American journal of human genetics - 4 Apr 2013
Pyott Shawna M, Tran Thao T, Leistritz Dru F, Pepin Melanie G, Mendelsohn Nancy J, Temme Renee T, Fernandez Bridget A, Elsayed Solaf M, Elsobky Ezzat, Verma Ishwar, Nair Sreelata, Turner Emily H, Smith Joshua D, Jarvik Gail P, Byers Peter H
Abstract excerpt
Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture. Mutations in COL1A1 and COL1A2, which encode the chains of type I procollagen, result in dominant forms of OI, and mutations in several other genes result in recessive forms of OI. Here, we describe four recessive-OI-affected families in which we identified...
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