{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:47:59Z","timestamp":1777942079890,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Ocular anomalies have been frequently reported in Noonan syndrome. Anterior segment anomalies have been described in 57% of <jats:italic>PTPN11<\/jats:italic> positive patients, with the most common findings being corneal changes and in particular, prominent corneal nerves and cataracts. We report on a neonate with a confirmed <jats:italic>PTPN11<\/jats:italic> mutation and ocular findings consistent with Axenfeld anomaly. The patient initially presented with non\u2010immune hydrops and subsequently developed hypertrophic cardiomyopathy and dysmorphic features typical of Noonan syndrome. While a pathogenic mutation in <jats:italic>PTPN11<\/jats:italic> was confirmed, prior testing for the two common genes associated with Axenfeld\u2013Rieger syndrome, <jats:italic>PITX2<\/jats:italic>, and <jats:italic>FOXC1<\/jats:italic> was negative. This finding expands the spectrum of anterior chamber anomalies seen in Noonan syndrome and perhaps suggests a common neural crest related mechanism that plays a critical role in the development of the eye and other organs. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36841","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T20:59:10Z","timestamp":1416949150000},"page":"403-406","source":"Crossref","is-referenced-by-count":9,"title":["Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld\u2010anomaly in a child with <i>PTPN11<\/i> mutation"],"prefix":"10.1002","volume":"167","author":[{"given":"Andrea","family":"Guerin","sequence":"first","affiliation":[{"name":"The Hospital for Sick Children Department of Pediatrics Division of Clinical and Metabolic Genetics Toronto Ontario Canada"},{"name":"Kingston General Hospital Department of Pediatrics Division of Medical Genetics Kingston Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce","family":"So","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children Department of Pediatrics Division of Clinical and Metabolic Genetics Toronto Ontario Canada"},{"name":"The Centre for Addiction and Mental Health Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamiar","family":"Mireskandari","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children Department of Ophthalmology and Vision Sciences Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soghra","family":"Jougeh\u2010Doust","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children Department of Pediatrics Division of Clinical and Metabolic Genetics Toronto Ontario 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