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Scientific Publications
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Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita.
| Publication Type | Journal Article |
| Authors | Johnson, CA, Hatfield M., and Pulido JS |
| Abstract | Dyskeratosis congenita is a rare multisystem bone marrow failure genetic disorder characterized by reticular skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Clinical ophthalmic features in these patients include retinal hemorrhages, retinal vasculopathy, telangiectasia, and macular exudates. |
| Year of Publication | 2009 |
| Journal | Ophthalmic genetics |
| Volume | 30 |
| Issue | 4 |
| Pages | 181-4 |
| Date Published (YYYY/MM/DD) | 2009/12/01 |
| ISSN Number | 1381-6810 |
| DOI | 10.3109/13816810903148012 |
| PubMed | http://www.ncbi.nlm.nih.gov/pubmed/19852575?dopt=Abstract |
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