{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T19:32:51Z","timestamp":1771356771905,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,11,17]],"date-time":"2016-11-17T00:00:00Z","timestamp":1479340800000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Syndromic microphthalmia\u20103 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4\u2010year\u2010old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the <jats:italic>SOX2<\/jats:italic> gene, confirming a diagnosis of syndromic microphthalmia\u20103. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.<\/jats:p>","DOI":"10.1111\/cga.12170","type":"journal-article","created":{"date-parts":[[2016,5,23]],"date-time":"2016-05-23T08:21:10Z","timestamp":1463991670000},"page":"250-252","source":"Crossref","is-referenced-by-count":5,"title":["Syndromic microphthalmia\u20103 caused by a mutation on gene SOX2 in a Colombian male patient"],"prefix":"10.1111","volume":"56","author":[{"given":"Andr\u00e9s Felipe","family":"Ramirez\u2010Botero","sequence":"first","affiliation":[{"name":"Universidad Icesi Health Science Faculty Congenital Abnormalities and Rare Diseases Research Center  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harry","family":"Pachajoa","sequence":"additional","affiliation":[{"name":"Universidad Icesi Health Science Faculty Congenital Abnormalities and Rare Diseases Research Center  Cali Colombia"},{"name":"Clinical Foundation Valle del Lili  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30442"},{"key":"e_1_2_6_3_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Bardakjian T","year":"2004"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01904.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31788"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1120"},{"issue":"1","key":"e_1_2_6_7_1","first-page":"1","article-title":"Heredity in Ophthalmology","volume":"118","author":"Fran\u00e7ois J","year":"1958","journal-title":"Bull Soc Belge Ophtalmol"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200890"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30283"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33556"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1021\/tx1001749"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.02.007"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30642"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<171::AID-AJMG13>3.0.CO;2-G"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.002"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00518.x"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31384"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12170","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12170","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12170","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T03:19:12Z","timestamp":1696389552000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1111\/cga.12170"],"URL":"https:\/\/doi.org\/10.1111\/cga.12170","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11]]}}}