Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta | Zendy

I Mouna Ben Amor | Zendy; Francis H. Glorieux | Zendy; Frank Rauch | Zendy

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Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

Author(s) -

I Mouna Ben Amor,

Francis H. Glorieux,

Frank Rauch

Publication year - 2011

Publication title -

journal of osteoporosis

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.421

H-Index - 19

eISSN - 2090-8059

pISSN - 2042-0064

DOI - 10.4061/2011/540178

Subject(s) - osteogenesis imperfecta , phenotype , medicine , genotype , genetics , type i collagen , gene , genotype phenotype distinction , mutation , population , pathology , biology , environmental health

Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is based on findings in a large single-centre OI population and a review of the literature

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