Journal
MECHANISMS OF AGEING AND DEVELOPMENT
Volume 129, Issue 1-2, Pages 48-59Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.mad.2007.10.006
Keywords
aplastic anaemia; dyskeratosis congenita; dyskerin; TERC; TERT; telomerase
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Funding
- Medical Research Council Funding Source: Medline
- Wellcome Trust [069399] Funding Source: Medline
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Dyskeratosis Congenita (DC) also known as Zinsser-Engman-Cole syndrome is a rare multi-system bone marrow failure syndrome characterised by mucocutaneous abnormalities and an increased predisposition to cancer. This is a common definition of DC but how did this definition arise? The aim of this review is to follow the development of DC and associated diseases from its first reported description in the early 20th century to the current understanding of the genes involved and its pathophysiology in 2007 in a chronological order. Although this review is not intended to be an exhaustive citation of the literature available it does provide a summary of the key developments, citing particularly the earlier reports of each development. (C) 2007 Elsevier Ireland Ltd. All fights reserved.
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