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Article

A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.

Ophthalmic genetics - 1 Aug 2020

Han Elaine, Patel Nimesh A, Yannuzzi Nicolas A, Laura Diana M, Fan Kenneth C, Negron Catherin I, Prakhunhungsit Supalert, Thorson Willa L, Berrocal Audina M

Abstract excerpt

Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities, nail...

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PMID: 32543263
DOI: 10.1080/13816810.2020.1772315

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A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.PMID 32543263Read ↗

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A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report.Semantic proximity Read ↗

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