Publication: A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations
Issued Date
2020-07-03
Resource Type
ISSN
17445094
13816810
13816810
Other identifier(s)
2-s2.0-85086938015
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Mahidol University
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SCOPUS
Bibliographic Citation
Ophthalmic Genetics. Vol.41, No.4 (2020), 363-367
Suggested Citation
Elaine Han, Nimesh A. Patel, Nicolas A. Yannuzzi, Diana M. Laura, Kenneth C. Fan, Catherin I. Negron, Supalert Prakhunhungsit, Willa L. Thorson, Audina M. Berrocal A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations. Ophthalmic Genetics. Vol.41, No.4 (2020), 363-367. doi:10.1080/13816810.2020.1772315 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/58064
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Title
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations
Abstract
© 2020, © 2020 Taylor & Francis Group, LLC. 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 dystrophy, and oral leukoplakia. This is the first reported case of a patient diagnosed with both CP and DC caused by compound heterozygous CTC1 gene mutations. Moreover, one of the variant mutations found in this patient has never been published before.