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Germline Mutations of Regulator of Telomere Elongation Helicase 1, RTEL1, In Dyskeratosis Congenita

Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere biology. The classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clin...

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Detalhes bibliográficos
Main Authors: Ballew, Bari J., Yeager, Meredith, Jacobs, Kevin, Giri, Neelam, Boland, Joseph, Burdett, Laurie, Alter, Blanche P., Savage, Sharon A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3600110/
https://ncbi.nlm.nih.gov/pubmed/23329068
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1265-8
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