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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Ophthalmological Society
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408541/ https://www.ncbi.nlm.nih.gov/pubmed/22870035 http://dx.doi.org/10.3341/kjo.2012.26.4.316 |