Journal
CURRENT RHEUMATOLOGY REPORTS
Volume 16, Issue 1, Pages -Publisher
SPRINGER
DOI: 10.1007/s11926-013-0394-3
Keywords
Collagen; Collagenopathies; Osteogenesis imperfecta; Stickler syndrome; Ehlers-Danlos syndrome; Alport syndrome; Porencephaly; Bethlemmyopathy; Ullrich congenital muscular dystrophy; Dystrophic epidermolysis bullosa; Junctional epidermolysis bullosa non-Herlitz
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Genetic defects of collagen formation (the collagenopathies) affect almost every organ system and tissue in the body. They can be grouped by clinical phenotype, which usually correlates with the tissue distribution of the affected collagen subtype. Many of these conditions present in childhood; however, milder phenotypes presenting in adulthood are increasingly recognized. Many are difficult to differentiate clinically. Precise diagnosis by means of genetic testing assists in providing prognosis information, family counseling, and individualized treatment. This review provides an overview of the current range of clinical presentations associated with collagen defects, and the molecular mechanisms important to understanding how the results of genetic testing affect medical care.
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