{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:30:21Z","timestamp":1761823821760},"reference-count":38,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","aaojournal.org","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1016\/j.ophtha.2016.06.061","type":"journal-article","created":{"date-parts":[[2016,8,9]],"date-time":"2016-08-09T17:46:24Z","timestamp":1470764784000},"page":"2137-2146","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["Ocular Manifestations of Noonan Syndrome"],"prefix":"10.1016","volume":"123","author":[{"given":"Doroth\u00e9e C.","family":"van Trier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna M.C.","family":"Vos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renske W.","family":"Draaijer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ineke","family":"van der Burgt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos M.Th.","family":"Draaisma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes R.M.","family":"Cruysberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ophtha.2016.06.061_bib1","first-page":"468","article-title":"Associated noncardiac malformations in children with congenital heart disease","volume":"63","author":"Noonan","year":"1963","journal-title":"J\u00a0Pediatrics"},{"key":"10.1016\/j.ophtha.2016.06.061_bib2","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/jmg.24.1.9","article-title":"Noonan syndrome","volume":"24","author":"Allanson","year":"1987","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib3","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1750-1172-2-4","article-title":"Noonan syndrome","volume":"2","author":"van der Burgt","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ophtha.2016.06.061_bib4","first-page":"48","article-title":"The Ullrich-Noonan syndrome (Turner phenotype)","volume":"127","author":"Nora","year":"1974","journal-title":"Am J Dis Child"},{"key":"10.1016\/j.ophtha.2016.06.061_bib5","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/ajmg.1320210312","article-title":"Noonan syndrome: a review","volume":"21","author":"Mendez","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib6","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/ng772","article-title":"Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome","volume":"29","author":"Tartaglia","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib7","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/340847","article-title":"PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity","volume":"70","author":"Tartaglia","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib8","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1086\/504394","article-title":"Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype","volume":"79","author":"Carta","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib9","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng1939","article-title":"Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome","volume":"39","author":"Tartaglia","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib10","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1038\/ng2078","article-title":"Germline gain-of-function mutations in RAF1 cause Noonan syndrome","volume":"39","author":"Razzaque","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib11","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1038\/ng1749","article-title":"Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome","volume":"38","author":"Niihori","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib12","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1038\/ng.425","article-title":"Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair","volume":"41","author":"Cordeddu","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib13","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ng.497","article-title":"A\u00a0restricted spectrum of NRAS mutations causes Noonan syndrome","volume":"42","author":"Cirstea","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib14","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1136\/jmg.2007.050450","article-title":"Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS\/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome","volume":"44","author":"Nava","year":"2007","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib15","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1002\/humu.22834","article-title":"Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome","volume":"36","author":"Cordeddu","year":"2015","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ophtha.2016.06.061_bib16","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ajhg.2013.05.021","article-title":"Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS\/MAPK pathway syndrome","volume":"93","author":"Aoki","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib17","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1177\/000992289403300907","article-title":"Noonan syndrome. An update and review for the primary pediatrician","volume":"33","author":"Noonan","year":"1994","journal-title":"Clin Pediatr"},{"key":"10.1016\/j.ophtha.2016.06.061_bib18","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/eye.1992.66","article-title":"Ocular manifestations of Noonan syndrome","volume":"6","author":"Lee","year":"1992","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.ophtha.2016.06.061_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/13816810.2011.593606","article-title":"Ocular manifestations of Noonan syndrome","volume":"33","author":"Marin","year":"2012","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib20","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/ajmg.1320530213","article-title":"Clinical and molecular studies in a large Dutch family with Noonan syndrome","volume":"53","author":"van der Burgt","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib21","series-title":"Anthropometry of the head and face","author":"Farkas","year":"1994"},{"key":"10.1016\/j.ophtha.2016.06.061_bib22","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1097\/00002341-198909000-00003","article-title":"The measurement and definition of ptosis","volume":"5","author":"Small","year":"1989","journal-title":"Ophthal Plast Reconstr Surg"},{"key":"10.1016\/j.ophtha.2016.06.061_bib23","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1007\/BF00291355","article-title":"Anthropometric definitions of dysmorphic facial signs","volume":"67","author":"Stengel-Rutkowski","year":"1984","journal-title":"Hum Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib24","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1159\/000350686","article-title":"Noonan syndrome: comparing mutation-positive with mutation-negative Dutch patients","volume":"4","author":"Croonen","year":"2013","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.ophtha.2016.06.061_bib25","first-page":"282","article-title":"Ocular manifestations of Noonan syndrome in the pediatric patient","volume":"8","author":"Reynolds","year":"2004","journal-title":"J\u00a0AAPOS"},{"key":"10.1016\/j.ophtha.2016.06.061_bib26","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1055\/s-0029-1216354","article-title":"Visual function in Noonan and LEOPARD syndrome","volume":"39","author":"Alfieri","year":"2008","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ophtha.2016.06.061_bib27","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/0002-9394(72)90466-7","article-title":"Noonan's syndrome associated with ocular abnormalities","volume":"73","author":"Schwartz","year":"1972","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ophtha.2016.06.061_bib28","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1046\/j.1365-2230.2000.00719.x","article-title":"Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome","volume":"25","author":"Hill","year":"2000","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.ophtha.2016.06.061_bib29","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/ajmg.a.36841","article-title":"Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation","volume":"167A","author":"Guerin","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ophtha.2016.06.061_bib30","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1471-2415-13-70","article-title":"MAPK activation in mature cataract associated with Noonan syndrome","volume":"13","author":"Hashida","year":"2013","journal-title":"BMC Ophthalmol"},{"key":"10.1016\/j.ophtha.2016.06.061_bib31","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1177\/112067219300300210","article-title":"Noonan's syndrome with keratoconus and optic disc coloboma","volume":"3","author":"Ascaso","year":"1993","journal-title":"Eur J Ophthalmol"},{"key":"10.1016\/j.ophtha.2016.06.061_bib32","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1136\/pgmj.63.741.559","article-title":"Colobomata associated with Noonan's syndrome","volume":"63","author":"Kleanthous","year":"1987","journal-title":"Postgrad Med J"},{"key":"10.1016\/j.ophtha.2016.06.061_bib33","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1136\/jmg.30.5.425","article-title":"Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?","volume":"30","author":"Verloes","year":"1993","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib34","doi-asserted-by":"crossref","first-page":"39","DOI":"10.3109\/13816819709057882","article-title":"Spontaneous corneal rupture in Noonan syndrome. A case report","volume":"18","author":"Au","year":"1997","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib35","doi-asserted-by":"crossref","first-page":"135","DOI":"10.11604\/pamj.2014.17.135.3049","article-title":"Spontaneous dislocation of a crystalline lens to the anterior chamber with pupillary block glaucoma in Noonan syndrome: a case report","volume":"17","author":"Mukhopadhyaya","year":"2014","journal-title":"Pan Afr Med J"},{"key":"10.1016\/j.ophtha.2016.06.061_bib36","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1111\/ceo.12389","article-title":"Noonan syndrome with bilateral acute angle-closure","volume":"43","author":"Padr\u00f3n-P\u00e9rez","year":"2015","journal-title":"Clin Experiment Ophthalmol"},{"key":"10.1016\/j.ophtha.2016.06.061_bib37","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1136\/jmg.2007.054460","article-title":"Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations","volume":"45","author":"Armour","year":"2008","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ophtha.2016.06.061_bib38","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1016\/j.ophtha.2015.03.020","article-title":"High-resolution imaging of the optic nerve and retina in optic nerve hypoplasia","volume":"122","author":"Pilat","year":"2015","journal-title":"Ophthalmol"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642016305942?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642016305942?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,12]],"date-time":"2019-09-12T06:16:09Z","timestamp":1568268969000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0161642016305942"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":38,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["S0161642016305942"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2016.06.061","relation":{},"ISSN":["0161-6420"],"issn-type":[{"value":"0161-6420","type":"print"}],"subject":[],"published":{"date-parts":[[2016,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ocular Manifestations of Noonan Syndrome","name":"articletitle","label":"Article Title"},{"value":"Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ophtha.2016.06.061","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 by the American Academy of Ophthalmology","name":"copyright","label":"Copyright"}]}}