{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:45Z","timestamp":1786976805047,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SOX2<\/jats:italic>\n                    pathogenic variants, though rare, constitute the most commonly known genetic cause of clinical anophthalmia and microphthalmia. However, patients without major ocular malformation, but with multi\u2010system developmental disorders, have been reported, suggesting that the range of clinical phenotypes is broader than previously appreciated. We detail two patients with bilateral structurally normal eyes along with 11 other previously published patients. Our findings suggest that there is no obvious phenotypic or genotypic pattern that may help set apart patients with normal eyes. Our patients provide further evidence for broadening the phenotypic spectrum of\n                    <jats:italic>SOX2<\/jats:italic>\n                    mutations and re\u2010appraising the designation of\n                    <jats:italic>SOX2<\/jats:italic>\n                    disorder as an anophthalmia\/microphthalmia syndrome. We emphasize the importance of considering\n                    <jats:italic>SOX2<\/jats:italic>\n                    pathogenic variants in the differential diagnoses of individuals with normal eyes, who may have varying combinations of features such as developmental delay, urogenital abnormalities, gastro\u2010intestinal anomalies, pituitary dysfunction, midline structural anomalies, and complex movement disorders, seizures or other neurological issues.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63239","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T01:06:12Z","timestamp":1683767172000},"page":"2198-2203","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>\n                      <i>SOX2<\/i>\n                    <\/scp>\n                    pathogenic variants with normal eyes: Expanding the phenotypic spectrum"],"prefix":"10.1002","volume":"191","author":[{"given":"Onochie","family":"Okoye","sequence":"first","affiliation":[{"name":"Pediatric Ophthalmology and Ocular Genetics Flaum Eye Institute, University of Rochester  New York New York USA"},{"name":"Department of Ophthalmology University of Nigeria Teaching Hospital  Enugu Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenina","family":"Capasso","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology and Ocular Genetics Flaum Eye Institute, University of Rochester  New York New York USA"},{"name":"Pediatric Genetics, Golisano Children's Hospital University of Rochester  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina M.","family":"Kopinsky","sequence":"additional","affiliation":[{"name":"Einstein Healthcare Network  Philadelphia Pennsylvania 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