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COMMENT
JOURNAL ARTICLE
RESEARCH SUPPORT, N.I.H., EXTRAMURAL
Connecting complex disorders through biology.
Nature Genetics 2012 March
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.
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