Article
Dyskeratosis congenita.
Seminars in hematology - 1 Jul 2006
Vulliamy Tom, Dokal Inderjeet
Abstract excerpt
Dyskeratosis congenita (DC) is a rare inherited multi-system disorder. Although DC is classically characterized by mucocutaneous features, the vast majority of patients develop hematologic abnormalities, and in its occult form the disease can present as aplastic anemia. The gene responsible for the X-linked form of the disease encodes a protein involved in ribosome biogenesis and in stabilizing the telomerase...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.