Article
The biology and management of dyskeratosis congenita and related disorders of telomeres.
Expert review of hematology - 1 Aug 2022
Tummala Hemanth, Walne Amanda, Dokal Inderjeet
Abstract excerpt
BACKGROUND: Dyskeratosis congenita (DC) is a multisystem syndrome characterized by mucocutaneous abnormalities, bone marrow failure, and predisposition to cancer. Studies over the last 25 years have led to the identification of 18 disease genes. These have a principal role in telomere maintenance, and patients usually have very short/abnormal telomeres. The advances have also led to the unification of DC with a...
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