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Updated: May 24, 2026

High Content Screening in Neurodegenerative Diseases
Published on: January 6, 2012
Connecting complex disorders through biology
1Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA. savagesh@mail.nih.gov
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.
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