Human RTEL1 Deficiency Causes Hoyeraal-Hreidarsson Syndrome With Short Telomeres and Genome Instability

Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Human RTEL1 Deficiency Causes Hoyeraal-Hreidarsson Syndrome With Short Telomeres and Genome Instability. Hum Mol Genet. 2013 Aug 15;22(16):3239-49.

PubMed ID: 
23591994