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Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expan...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
The Korean Ophthalmological Society
2012
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3408541/ https://ncbi.nlm.nih.gov/pubmed/22870035 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3341/kjo.2012.26.4.316 |
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