Article
Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes.
Pediatric endocrinology reviews : PER - 1 Sept 2006
Tedeschi Elisa, Antoniazzi Franco, Venturi Giacomo, Zamboni Giorgio, Tatò Luciano
Abstract excerpt
Osteogenesis Imperfecta is a genetic disorder of increased bone fragility and low bone mass. Most cases are caused by a mutation in one of the two genes coding for the type I collagen protein. The correct clinical diagnosis of OI can be difficult sometimes, because of the wide phenotypic range. Therefore collagen I genes mutation identification can be helpful. We screened 23 patients by direct sequencing of the...
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