{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:23:37Z","timestamp":1787840617975,"version":"build-2784847793"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Characteristic features of Noonan syndrome include dysmorphic facies, short stature, and congenital cardiac defects. Pathogenic variants in\n                    <jats:italic toggle=\"yes\">PTPN11<\/jats:italic>\n                    are one of the common causes and may result in optic nerve head anomalies. We describe the optic nerve findings in two families with Noonan syndrome due to pathogenic variants in\n                    <jats:italic toggle=\"yes\">PTPN11<\/jats:italic>\n                    . Optic nerve anomalies, including an enlarged cup\/disc ratio, are a feature of Noonan syndrome due to pathogenic variants in\n                    <jats:italic toggle=\"yes\">PTPN11<\/jats:italic>\n                    . This optic nerve anomaly could potentially lead to the misdiagnosis of glaucoma.\n                    <jats:italic toggle=\"yes\">PTPN11<\/jats:italic>\n                    is important for functional fibroblast growth factor signaling, which, if interrupted, may lead to optic nerve dysgenesis and ocular coloboma.\n                  <\/jats:p>","DOI":"10.4103\/ojo.ojo_80_25","type":"journal-article","created":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T17:04:27Z","timestamp":1761671067000},"page":"396-398","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Optic nerve changes in PTPN11-related Noonan syndrome"],"prefix":"10.4103","volume":"18","author":[{"given":"Tarek Saad","family":"Shoala","sequence":"first","affiliation":[{"name":"Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA"},{"name":"Memorial Institute Kids Eye Center - Memorial Institute of Ophthalmological Research, Giza, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda M.","family":"Reis","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenina","family":"Capasso","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Semina","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA"},{"name":"Department of Pediatrics and Children\u2019s Research Institute, Medical College of Wisconsin and Children\u2019s Hospital of Wisconsin, Milwaukee, WI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex V.","family":"Levin","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA"},{"name":"Department of Genetics, Golisano Children\u2019s Hospital, University of Rochester, Rochester, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,10,28]]},"reference":[{"key":"R1-20251030","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ajmg.c.32012","article-title":"The molecular genetics of RASopathies:An update on novel disease genes and new disorders","volume":"190","author":"Tartaglia","year":"2022","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R2-20251030","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/340847","article-title":"PTPN11 mutations in Noonan syndrome:Molecular spectrum, 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