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Title: Connecting complex disorders through biology.
Authors: Savage SA
Journal: Nat Genet
Date: 2012 Mar
Branches: CGB
PubMed ID: 22366859
PMC ID: not available
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.