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Dyskeratosis congenita as a disorder of telomere maintenance

✍ Scribed by Nya D. Nelson; Alison A. Bertuch

Book ID
113809566
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
681 KB
Volume
730
Category
Article
ISSN
0027-5107

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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 re