Article
Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2013
Ben Amor I Mouna, Roughley Peter, Glorieux Francis H, Rauch Frank
Abstract excerpt
COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. In this study we assessed 86 patients (36 male, 50 female; mean age 13.3 years; range, 0.6 to 54 years) with COL1A1 haploinsufficiency mutations, of whom 70 were aged 21 years or less ("pediatric"...
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