Dyskeratosis congenita with corneal limbal insufficiency | Zendy

Aslan Deniz | Zendy; Ozdek Sengul | Zendy; Camurdan Orhun | Zendy; Bideci Aysun | Zendy; Cinaz Peyami | Zendy

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Dyskeratosis congenita with corneal limbal insufficiency

Author(s) -

Aslan Deniz,

Ozdek Sengul,

Camurdan Orhun,

Bideci Aysun,

Cinaz Peyami

Publication year - 2009

Publication title -

pediatric blood and cancer

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.116

H-Index - 105

eISSN - 1545-5017

pISSN - 1545-5009

DOI - 10.1002/pbc.21960

Subject(s) - medicine , dyskeratosis congenita , dermatology , dyskeratosis , premature aging , corneal diseases , cornea , corneal dystrophy , ophthalmology , hyperkeratosis , telomere , physiology , dna , genetics , biology

We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stem cell activity, a biological process caused by underlying telomeric defect in this disease. Pediatr Blood Cancer 2009;53:95–97. © 2009 Wiley‐Liss, Inc.

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