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Dyskeratosis congenita: a genetic disorder of many faces

15 Nov 2007

Abstract excerpt

Dyskeratosis congenita (DC) is an inherited syndrome exhibiting marked clinical and genetic heterogeneity. It is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. Three genetic subtypes are recognized: X-linked recessive DC bears mutations in DKC1, the gene encoding dyskerin, a component of H/ACA small nucleolar...

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Share to Advanced biosensing and bioanalysis techniques
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PMID: 18005359
DOI: 10.1111/j.1399-0004.2007.00923.x

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