Results 211 to 220 of about 109,635 (268)

Favorable aortic remodeling following type B aortic dissection in a patient with osteogenesis imperfecta. [PDF]

open access: yesJ Vasc Surg Cases Innov Tech
Davis C   +3 more
europepmc   +1 more source

Osteogenesis imperfecta [PDF]

open access: yesNature Reviews Disease Primers, 2017
Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI-XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from fibroblasts.
Nick Bishop   +2 more
exaly   +11 more sources

Osteogenesis Imperfecta

The Lancet, 2004
Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass, and other connective-tissue manifestations. The most frequently used classification outlines four clinical types, which we have expanded to seven distinct types. In most patients the disorder is caused by mutations in one of the two genes encoding collagen type 1,
Frank, Rauch, Francis H, Glorieux
openaire   +4 more sources

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