{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:47:58Z","timestamp":1760906878963},"reference-count":3,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3549,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,8,28]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The index patient of this report is a 17\u2010weekgestation female fetus with bilateral anophthalmia, bilateral cleft lip\/cleft palate, macrotia with bilateral lateral facial cleft, large open sacral neural tube defect, and uterus unicornis. Parents were normal and nonconsanguineous with an unremarkable family history. Their first child, a 4\u2010year\u2010old boy, is normal. The second child, a 2 \u00bd\u2010year\u2010old boy, has bilateral anophthalmia and an abnormal left ear with absent lobule as the sole additional anomaly. These 2 sibs seem to be the first examples of a new \u201canophthalmia\u2010plus\u201d syndrome apparently inherited as autosomal\u2010recessive. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:04:36Z","timestamp":1118513076000},"page":"113-114","source":"Crossref","is-referenced-by-count":19,"title":["Apparently new \u201canophthalmia\u2010plus\u201d syndrome in sibs"],"prefix":"10.1002","volume":"58","author":[{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Moerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamiel","family":"Vandenberghe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herman","family":"Van den Berghe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_1_1","first-page":"55","article-title":"Unknown case. S.N. \u201cGGC\u20108217\u201d 23 month old white male","volume":"7","author":"Curtis Rogers R","year":"1988","journal-title":"Proc Greenwood Genetic Center"},{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03458.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500108"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320580204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320580204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T17:38:55Z","timestamp":1698341935000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320580204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,8,28]]},"references-count":3,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,8,28]]}},"alternative-id":["10.1002\/ajmg.1320580204"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320580204","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,8,28]]}}}