A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which...

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Main Authors: Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck, Megan M Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J Boulton, Sharon A Savage, John H J Petrini
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-08-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003695&type=printable
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