Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Choi, Jun Ho, Choi, Youn Joo, Kim, So Young
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Korean Ophthalmological Society 2012
Pynciau:
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!