A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

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 BurdettKenneth Offit, Simon J. Boulton, Sharon A. Savage, John H J Petrini

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