title: Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.
authors.affiliation: Department of Medical Genetics, The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia, V5Z4H4, Canada. johnlee@cmmt.ubc.ca
authors.forename: J W
authors.initials: JW
authors.lastname: Lee
mesh_terms: D004265:DNA Helicases / Q000235:genetics*; D019871:Dyskeratosis Congenita / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense
chemical_list: D004265:DNA Helicases