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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?

Fig. 1

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Pleiotropic action of collagen VI in the human body. The tissues and the most prominent phenotypes which constitute COL VI-CMD, based on current knowledge, are skeletal muscle (muscle wasting), tendons (contractures and hypermobility), skin (follicular hyperkeratosis and keloids), and cartilage & bones (scoliosis). However, collagen VI is widely expressed in the human body and may also have important roles in cardiovascular and gastrointestinal disease, obesity, metabolic disease, and cancer.

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