| Literature DB >> 19393523 |
Judy E Kim1, Mark S Ruttum, Matthew J Koeberl, Eryn L Hassemer, D J Sidjanin.
Abstract
Juvenile retinoschisis is a rare retinal dystrophy caused by RS1 gene mutations.(1) Clinical examinations and molecular testing definitively diagnosed juvenile retinoschisis in 2 male infants, one of whom had a novel mutation not previously reported in the United States. Genetic testing may be the simplest way to confirm this diagnosis in infants.Entities:
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Year: 2009 PMID： 19393523 PMCID： PMC3926297 DOI： 10.1016/j.jaapos.2008.11.005
Source DB: PubMed Journal: J AAPOS ISSN： 1091-8531 Impact factor: 1.220