Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Abstract excerpt

Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased risk of malignancy and other somatic abnormalities. There is a considerable range of clinical severity and in its occult form the disease may present as idiopathic aplastic anaemia. Genes responsible for X-linked, autosomal dominant and autosomal recessive forms of the disease have been...

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