title: Connecting complex disorders through biology.
abstract: Mutations in CTC1, which encodes a key telomere component, have been identified as the cause of Coats plus syndrome. This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome.
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA. savagesh@mail.nih.gov
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D058456:Retinal Telangiectasis / Q000235:genetics*; D016615:Telomere / Q000473:pathology*; D034501:Telomere-Binding Proteins / Q000235:genetics*
chemical_list: C544945:Ctc1 protein, human; D034501:Telomere-Binding Proteins