{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T01:57:03Z","timestamp":1790042223952,"version":"4.0.1"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,11,10]],"date-time":"2019-11-10T00:00:00Z","timestamp":1573344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01EY015518"],"award-info":[{"award-number":["R01EY015518"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01EY025718"],"award-info":[{"award-number":["R01EY025718"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01EY026910"],"award-info":[{"award-number":["R01EY026910"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Peters anomaly (PA) is a congenital corneal opacity associated with corneo\u2010lenticular attachments. PA can be isolated or part of a syndrome with most cases remaining genetically unsolved. Exome sequencing of a trio with syndromic PA and 145 additional unexplained probands with developmental ocular conditions identified a de novo splicing and three novel missense heterozygous\n                    <jats:italic>CDH2<\/jats:italic>\n                    variants affecting the extracellular cadherin domains in four individuals with PA. Syndromic anomalies were seen in three individuals and included left\u2010sided cardiac lesions, dysmorphic facial features, and decreasing height percentiles; brain magnetic resonance imaging identified agenesis of the corpus callosum and hypoplasia of the inferior cerebellar vermis.\n                    <jats:italic>CDH2<\/jats:italic>\n                    encodes for N\u2010cadherin, a transmembrane protein that mediates cell\u2010cell adhesion in multiple tissues. Immunostaining in mouse embryonic eyes confirmed N\u2010cadherin is present in the lens stalk at the time of separation from the future cornea and in the developing lens and corneal endothelium at later stages, supporting a possible role in PA. Previous studies in animal models have noted the importance of\n                    <jats:italic>Cdh2\/cdh2<\/jats:italic>\n                    in the development of the eye, heart, brain, and skeletal structures, also consistent with the patient features presented here. Examination of\n                    <jats:italic>CDH2<\/jats:italic>\n                    in additional patients with PA is indicated to confirm this association.\n                  <\/jats:p>","DOI":"10.1111\/cge.13660","type":"journal-article","created":{"date-parts":[[2019,10,25]],"date-time":"2019-10-25T01:19:08Z","timestamp":1571966348000},"page":"502-508","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Novel variants in\n                    <i>CDH2<\/i>\n                    are associated with a new syndrome including Peters anomaly"],"prefix":"10.1111","volume":"97","author":[{"given":"Linda M.","family":"Reis","sequence":"first","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin  Milwaukee Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie S.","family":"Houssin","sequence":"additional","affiliation":[{"name":"College of Optometry The Ohio State University  Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Zamora","sequence":"additional","affiliation":[{"name":"Department of Radiology, Division of Neuroradiology University of North Carolina at Chapel Hill  Chapel Hill North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Abdul\u2010Rahman","sequence":"additional","affiliation":[{"name":"Genetic Medicine, Munroe\u2010Meyer Institute University of Nebraska Medical Center  Omaha Nebraska"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Kalish","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"Timothy F.","family":"Plageman","sequence":"additional","affiliation":[{"name":"College of Optometry The Ohio State University  Columbus Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0531-3586","authenticated-orcid":false,"given":"Elena V.","family":"Semina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin  Milwaukee Wisconsin"},{"name":"Department of Ophthalmology and Visual Sciences, Department of Cell Biology, Neurobiology and Anatomy, Children's Research Institute, Medical College of Wisconsin Children's Hospital of Wisconsin  Milwaukee Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0b013e31820156a9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.85.12.1421"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12241"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1481-x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37840"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0b013e328349412b"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.06.015"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32498"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.106.3.873"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.6.1193"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.8443"},{"key":"e_1_2_8_15_1","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1242\/dev.128.4.459","article-title":"Rescuing 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