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Curr Rheumatol Rep. 2014 Jan;16(1):394. doi: 10.1007/s11926-013-0394-3.

The collagenopathies: review of clinical phenotypes and molecular correlations.

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Bone Health Centre, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 525 University Avenue, Toronto, ON, Canada.


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.

[Indexed for MEDLINE]

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