학술저널
Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
- 대한안과학회
- The Korean Journal of Ophthalmology
- Vol.26 No.4
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2012.08316 - 318 (3 pages)
- 0
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 expands the clinical spectrum of this rare entity.
Case Report
Discussion
Conflict of Interest
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