{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T15:41:33Z","timestamp":1767973293134,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,8,23]],"date-time":"2010-08-23T00:00:00Z","timestamp":1282521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2010,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Peters Plus syndrome is a very rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major\/minor anomalies. Mutations in the <jats:italic>B3GALTL<\/jats:italic> gene encoding \u03b2 1,3\u2010glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. We report on a female patient with unusually severe manifestations of Peters Plus syndrome, including anterior eye staphyloma, cleft lip and palate, and hypoplastic left heart syndrome (HLHS). Analysis of the <jats:italic>B3GALTL<\/jats:italic> gene revealed no mutation in the patient. To our knowledge, HLHS has not previously been reported in Peters Plus syndrome so far, and anterior staphyloma, a most severe defect of the anterior eye chamber, is also apparently rare in the syndrome. Our patient might represent a new syndrome of severe Peters Plus syndrome\u2010like phenotype with anterior eye staphyloma and HLHS.<\/jats:p>","DOI":"10.1111\/j.1741-4520.2010.00282.x","type":"journal-article","created":{"date-parts":[[2010,6,24]],"date-time":"2010-06-24T11:18:37Z","timestamp":1277378317000},"page":"197-199","source":"Crossref","is-referenced-by-count":14,"title":["Severe Peters Plus syndrome\u2010like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome"],"prefix":"10.1111","volume":"50","author":[{"given":"Reiko","family":"Shimizu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryota","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Hoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Negishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiro","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norimasa","family":"Mitsui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makiko","family":"Osawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,8,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951100005722"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10617"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2005.11.068"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/507567"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(02)01120-6"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.82.5.698"},{"key":"e_1_2_5_8_1","first-page":"1307","article-title":"A case of Peters' anomaly with systemic malformations","volume":"50","author":"Nozaki M","year":"1996","journal-title":"Rinsho Ganka"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32498"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3282358d21"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818409006113"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951105000132"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302303"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1741-4520.2010.00282.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1741-4520.2010.00282.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T04:22:39Z","timestamp":1697430159000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2010.00282.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,23]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1111\/j.1741-4520.2010.00282.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1741-4520.2010.00282.x","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,23]]}}}