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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Acknowledgements
The author thanks B.P. Alter for helpful discussions and for sharing unpublished data and N. Giri for providing clinical insights. This work was supported by the intramural research program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health.
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Supplementary Table 1
Comparison of clinical findings in Coats plus, Revesz syndrome, Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita (PDF 69 kb)
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Savage, S. Connecting complex disorders through biology. Nat Genet 44, 238–240 (2012). https://doi.org/10.1038/ng.2206
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DOI: https://doi.org/10.1038/ng.2206
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