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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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Bibliografski detalji
Glavni autori: Choi, Jun Ho, Choi, Youn Joo, Kim, So Young
Format: Artigo
Jezik:Inglês
Izdano: The Korean Ophthalmological Society 2012
Teme:
Online pristup: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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