SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
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| Title: | SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum. |
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| Authors: | Okoye O; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, New York, New York, USA.; Department of Ophthalmology, University of Nigeria Teaching Hospital, Enugu, Nigeria., Capasso J; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, New York, New York, USA.; Pediatric Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York, USA., Kopinsky SM; Einstein Healthcare Network, Philadelphia, Pennsylvania, USA., Amlie-Wolf L; Nemours Children's Health, Delaware, USA., Levin AV; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, New York, New York, USA.; Pediatric Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York, USA., Schneider A; Department of Pediatrics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2198-2203. Date of Electronic Publication: 2023 May 10. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63239 |
