Article
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Blood - 15 Dec 2007
Marrone Anna, Walne Amanda, Tamary Hannah, Masunari Yuka, Kirwan Michael, Beswick Richard, Vulliamy Tom, Dokal Inderjeet
Abstract excerpt
Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC. Many patients with DC remain uncharacterized,...
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