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dyskeratosis congenita


Definition: nail dystrophy, oral leukoplakia, and reticular pigmentation of the skin, testicular atrophy with anemia progressing most commonly to pancytopenia; X-linked recessive inheritance, caused by mutation in the DKC1 gene encoding dyskenin on Xq.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.