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WERNER SYNDROME, WRN
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| Werner syndrome has been found to be caused by mutations in the RECQL2 gene (604611), which encodes a homolog of the E. coli RecQ DNA helicase. The features of Werner syndrome are scleroderma-like skin changes, especially in the extremities, cataract, subcutaneous calcification, premature arteriosclerosis, diabetes mellitus, and a wizened and prematurely aged facies. The habitus is characteristic, with short stature, slender limbs, and stocky trunk. The nose is beaked. |
DNA repair proteins related with WERNER SYNDROME, WRN (#277700 ) disease:
Following keywords are related to WERNER SYNDROME, WRN:
Last modification of this entry: Oct. 12, 2010.
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