Publication: Novel frizzled-4 mutation is associated with familial exudative vitreoretinopathy mimicking persistent fetal vasculature
dc.contributor.author | Patrick C. Staropoli | en_US |
dc.contributor.author | Nicolas A. Yannuzzi | en_US |
dc.contributor.author | Nimesh A. Patel | en_US |
dc.contributor.author | Catherin I. Negron | en_US |
dc.contributor.author | Supalert Prakhunhungsit | en_US |
dc.contributor.author | Audina M. Berrocal | en_US |
dc.contributor.other | Bascom Palmer Eye Institute | en_US |
dc.contributor.other | Faculty of Medicine, Siriraj Hospital, Mahidol University | en_US |
dc.date.accessioned | 2020-08-25T11:03:02Z | |
dc.date.available | 2020-08-25T11:03:02Z | |
dc.date.issued | 2020-02-01 | en_US |
dc.description.abstract | Copyright © SLACK Incorporated This is a report of a 13-month-old boy who presented with a large unilateral fibrovascular stalk and bilateral peripheral retinal avascularity. Although consistent with both persistent fetal vasculature and familial exudative vitreoretinopathy, genetic testing disclosed a novel pathogenic mutation in the frizzled class receptor 4 gene (FZD4, c.427_428delCT). | en_US |
dc.identifier.citation | Journal of Pediatric Ophthalmology and Strabismus. Vol.57, No.1 (2020), E4-E7 | en_US |
dc.identifier.doi | 10.3928/01913913-20191230-01 | en_US |
dc.identifier.issn | 19382405 | en_US |
dc.identifier.issn | 01913913 | en_US |
dc.identifier.other | 2-s2.0-85078301964 | en_US |
dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/20.500.14594/58209 | |
dc.rights | Mahidol University | en_US |
dc.rights.holder | SCOPUS | en_US |
dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85078301964&origin=inward | en_US |
dc.subject | Medicine | en_US |
dc.title | Novel frizzled-4 mutation is associated with familial exudative vitreoretinopathy mimicking persistent fetal vasculature | en_US |
dc.type | Article | en_US |
dspace.entity.type | Publication | |
mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85078301964&origin=inward | en_US |