Article
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Human molecular genetics - 1 Feb 2009
Bodian Dale L, Chan Ting-Fung, Poon Annie, Schwarze Ulrike, Yang Kathleen, Byers Peter H, Kwok Pui-Yan, Klein Teri E
Abstract excerpt
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. Although OI generally results from mutations in the type I collagen genes, COL1A1 and COL1A2, the relationship between genotype and phenotype is not yet well understood. To provide additional data for genotype-phenotype analyses and to...
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