Dyskeratosis congenita (DC) is a complex syndrome exhibiting marked clinical and genetic
heterogeneity. In its classic form it is characterized by mucocutaneous abnormalities, bone
marrow (BM) failure, and a predisposition to cancer. Studies over the past 15 years have led
to significant advances with 10 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TINF2,
C16orf57/USB1, TCAB1, CTC1, and RTEL1) having been characterized. Nine of these are
important in telomere maintenance, and patients usually have very short telomeres. These …

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Search Visual Search Search History Title: Dyskeratosis congenita in all its forms. Language:
English Authors: Dokal, Inderjeet 1 Source: British Journal of Haematology Document Type:
Article Subject Terms: *GENETIC disorders *X chromosome Keywords: aplastic anaemia bone …