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Ophthalmic Genetics Volume 30, 2009 - Issue 4
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Original Article

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita

Charles A. JohnsonBroad Institute, Cambridge, Massachusetts, USA
,
Mark HatfieldRetina Consultants P. L.L.C., Charleston, West Virginia, USA
&
Jose S. PulidoThe Mayo Clinic, Rochester, Minnesota, USACorrespondence[email protected]
Pages 181-184 | Received 19 Apr 2009, Accepted 20 Jun 2009, Published online: 23 Oct 2009

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G. Peene, E. Smets, E. Legius & C. Cassiman. (2018) Unilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report. Ophthalmic Genetics 39:2, pages 247-250.
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Mrinali P. Gupta, Katherine E. Talcott, David Y. Kim, Suneet Agarwal & Shizuo Mukai. (2017) Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. Ophthalmic Genetics 38:1, pages 51-60.
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Ahmad M Mansour, Jong Wook Lee, Seung Ah Yahng, Kyu Seop Kim, Maha Shahin, Nelson Hamerschlak, Rubens N Belfort & Shree K Kurup. (2014) Ocular manifestations of idiopathic aplastic anemia: retrospective study and literature review. Clinical Ophthalmology 8, pages 777-787.
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Articles from other publishers (14)

Atul Arora, Ramandeep Singh & Mohit Dogra. (2022) Bilateral cytomegalovirus retinitis as the presenting feature of Dyskeratosis Congenita. European Journal of Ophthalmology 33:3, pages NP122-NP125.
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Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Paula Leal-Anaya, Renée van ‘t Hek, Talia Wegman-Ostrosky, Sara Frías & Alfredo Rodríguez. (2022) Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability. Frontiers in Oncology 12.
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Takahisa Hirokawa, Shou Oosuka, Masahiro Tonari, Hiroshi Mizuno, Teruyo Kida, Akiko Inoue, Akira Ashida & Tsunehiko Ikeda. (2021) A Case of Presumed Dyskeratosis Congenita Causing Severe Retinal Vascular Occlusion. Case Reports in Ophthalmology 12:2, pages 344-349.
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Maciej Gawęcki. (2021) Idiopathic Peripheral Retinal Telangiectasia in Adults: A Case Series and Literature Review. Journal of Clinical Medicine 10:8, pages 1767.
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Stephanie B. Engelhard, Szilard Kiss & Mrinali P. Gupta. (2020) Retinal manifestations of the neurocutaneous disorders. Current Opinion in Ophthalmology 31:6, pages 549-562.
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Manahel Mahmood AlSabbagh. (2020) Dyskeratosis congenita: ein Literaturüberblick. JDDG: Journal der Deutschen Dermatologischen Gesellschaft 18:9, pages 943-968.
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Manahel Mahmood AlSabbagh. (2020) Dyskeratosis congenita: a literature review. JDDG: Journal der Deutschen Dermatologischen Gesellschaft 18:9, pages 943-967.
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Benjamin G. Wajda, Alexander S. Platt, April D. Ingram & Anna L. Ells. (2017) Retinal Findings of a Unique RTEL1 Mutation in Dyskeratosis Congenita. Journal of VitreoRetinal Diseases 1:6, pages 411-414.
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Kareem Moussa, James N. Huang & Anthony T. Moore. (2017) Revesz syndrome masquerading as traumatic retinal detachment. Journal of American Association for Pediatric Ophthalmology and Strabismus 21:5, pages 422-425.e1.
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Aristomenis ThanosBozho TodorichStephen M. HypesYoshihiro Yonekawa, Benjamin ThomasSandeep RandhawaKimberly A. DrenserMichael T. Trese. (2017) RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. RETINAL Cases & Brief Reports 11:1, pages S187-S190.
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Michael J. Allingham. (2016) Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. Ophthalmic Surgery, Lasers and Imaging Retina 47:4, pages 366-368.
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Sima Hosseinverdi, Hassan Hashemi, Asghar Aghamohammadi, Hans D. Ochs & Nima Rezaei. (2013) Ocular Involvement in Primary Immunodeficiency Diseases. Journal of Clinical Immunology 34:1, pages 23-38.
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Sara Vaz-Pereira, Patricio A. Pacheco, Shreyans Gandhi, Austin G. Kulasekararaj, Judith C. Marsh, Bishwanath Pal & Ghulam J. Mufti. (2018) Bilateral Retinal Vasculopathy Associated with Autosomal Dominant Dyskeratosis Congenita. European Journal of Ophthalmology 23:5, pages 772-775.
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Sara Haug, Sandeep Randhawa, Arthur Fu & H. Richard McDonald. (2013) CYTOMEGALOVIRUS RETINITIS IN DYSKERATOSIS CONGENITA. Retinal Cases & Brief Reports 7:1, pages 29-31.
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