A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations-Reference-Cited by-同舟云学术

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

Published:2020-06-16 Issue:4 Volume:41 Page:363-367
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Han Elaine¹^ORCID,Patel Nimesh A.¹^ORCID,Yannuzzi Nicolas A.¹,Laura Diana M.¹,Fan Kenneth C.¹^ORCID,Negron Catherin I.¹,Prakhunhungsit Supalert¹²,Thorson Willa L.³,Berrocal Audina M.¹

Affiliation:

1. Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA

2. Department of Ophthalmology, Siriraj Hospital, Mahidol University, Bangkok, Thailand

3. Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1772315

Reference14 articles.

1. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

2. Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

3. Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex

4. CTC1 Mutations in a patient with dyskeratosis congenita

5. Coats Plus Syndrome

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