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Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using whole-exome s...

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Autori principali: Walne, Amanda J., Vulliamy, Tom, Kirwan, Michael, Plagnol, Vincent, Dokal, Inderjeet
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591859/
https://ncbi.nlm.nih.gov/pubmed/23453664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.02.001
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