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Ophthalmic Genetics Volume 41, 2020 - Issue 4
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Case Reports

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

Elaine Hana Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USAORCID Iconhttps://orcid.org/0000-0003-1694-1908
ORCID Icon,
Nimesh A. Patela Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USAORCID Iconhttps://orcid.org/0000-0002-6681-6104
ORCID Icon,
Nicolas A. Yannuzzia Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
,
Diana M. Lauraa Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
,
Kenneth C. Fana Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USAORCID Iconhttps://orcid.org/0000-0002-4453-9337
ORCID Icon,
Catherin I. Negrona Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
,
Supalert Prakhunhungsita Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA;b Department of Ophthalmology, Siriraj Hospital, Mahidol University, Bangkok, Thailand
,
Willa L. Thorsonc Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA
&
Audina M. Berrocala Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USACorrespondence[email protected]
 show all
Pages 363-367 | Received 10 Apr 2020, Accepted 17 May 2020, Published online: 16 Jun 2020

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Ashley López-Cañizares, Maria P. Fernandez, Hasenin Al-Khersan, Piero Carletti, Monica S Arroyo, Maria C Fernandez-Ruiz & Audina M Berrocal. (2022) Coats plus in prematurity. Ophthalmic Genetics 43:4, pages 543-549.
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Articles from other publishers (12)

Lv Liu, Hua Luo, Yue Sheng, Xi Kang, Hong Peng, Hong Luo & Liang-Liang Fan. (2023) A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease. Hereditas 160:1.
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Fae B. Kayarian, Steven M. Cohen, Mark L. Cohen & Daniel E. Sammartino. (2023) Coats Plus Syndrome Presenting in an Adult. Journal of VitreoRetinal Diseases 7:6, pages 562-564.
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Amy Coman, Patrick Murtagh & Noel Horgan. (2023) Retinal vasoproliferative tumour: differential diagnoses and treatment considerations in a paediatric patient. BMJ Case Reports 16:9, pages e254859.
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Sarah W. Cai & Titia de Lange. (2023) CST–Polα/Primase: the second telomere maintenance machine. Genes & Development 37:13-14, pages 555-569.
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Dinh Duc Nguyen, Eugene Kim, Nhat Thong Le, Xianzhong Ding, Rishi Kumar Jaiswal, Raymond Joseph Kostlan, Thi Ngoc Thanh NguyenOlga ShivaMinh Thong LeWeihang Chai. (2023) Deficiency in mammalian STN1 promotes colon cancer development via inhibiting DNA repair. Science Advances 9:19.
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Patrick Revy, Caroline Kannengiesser & Alison A. Bertuch. (2022) Genetics of human telomere biology disorders. Nature Reviews Genetics 24:2, pages 86-108.
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Avery E. Sears, Caroline C. Awh, Shafeeque Kunhiabdullah, Jonathan E. Sears & Danny A. Mammo. (2022) Coats Plus Syndrome in a Premature Infant, With a Focus on Management. Journal of VitreoRetinal Diseases 7:1, pages 74-78.
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Kushal U. Agrawal, Nicholas E. Kalafatis & Carol L. Shields. (2022) Coats plus syndrome with new observation of drusenoid retinal pigment epithelial detachments in a teenager. American Journal of Ophthalmology Case Reports 28, pages 101713.
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David H. Abramson, Robin Cruz-Abrams & Jasmine H. Francis. (2022) Coats Disease and Premature Telomere Shortening. Journal of Pediatric Ophthalmology & Strabismus 59:4, pages 280-280.
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Hueng-Chuen Fan, Fung-Wei Chang, Jeng-Dau Tsai, Kao-Min Lin, Chuan-Mu Chen, Shinn-Zong Lin, Ching-Ann Liu & Horng-Jyh Harn. (2021) Telomeres and Cancer. Life 11:12, pages 1405.
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Arunabh Choudhury, Taj Mohammad, Nikhil Samarth, Afzal Hussain, Md. Tabish Rehman, Asimul Islam, Mohamed F. Alajmi, Shailza Singh & Md. Imtaiyaz Hassan. (2021) Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1. Scientific Reports 11:1.
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Yang Liu, Xiaotong Zhao, Bing Wang, Zhijia Liu, Manman Zhang, Jinhan Wang, Chang Xu, Yan Wang, Liqing Du, Feng Wang, Qin Wang & Qiang Liu. (2021) miR-376a Provokes Rectum Adenocarcinoma Via CTC1 Depletion-Induced Telomere Dysfunction. Frontiers in Cell and Developmental Biology 9.
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