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Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome


  • JW Lee

    1. Department of Medical Genetics, The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.
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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenital

Ballew et al. (2013)

Journal of Human Genetics 132: 473–480.

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

Walne et al. (2013)

American Journal of Human Genetics 92 (3): 448–453.