A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH.
Ballew BJ, et al. Among authors: sarek g.
PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29.
PLoS Genet. 2013.
PMID: 24009516
Free PMC article.