Recent progress in dyskeratosis congenita.

Abstract excerpt

Dyskeratosis congenita (DC) is an inherited disease associated with nail dystrophy, abnormal skin pigmentation, oral leukoplakia, bone marrow failure and a predisposition to cancer. DC is a disease of defective telomere maintenance and patients with DC have very short telomeres. To date, mutations in six genes of telomerase and telomere components have been identified in patients with DC. Recently, mutations in...

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