{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:03:47Z","timestamp":1790615027377,"version":"4.1.0"},"reference-count":4,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4815,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two sibs affected with Knobloch syndrome comprising severe visual handicap (high myopia and retinal detachment with other defects), atypical occipital cephalocele, and unusual plantar creases are described.<\/jats:p>","DOI":"10.1002\/ajmg.1320420605","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:55:27Z","timestamp":1118537727000},"page":"777-779","source":"Crossref","is-referenced-by-count":30,"title":["The second report of Knobloch syndrome"],"prefix":"10.1002","volume":"42","author":[{"given":"A. E.","family":"Czeizel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"G\u00f6bly\u00f6s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Kustos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Mester","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Paraicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420250206"},{"key":"e_1_2_1_3_1","unstructured":"CzeizelA TbrzsE KovacsJ SzaWG VitezM DiazL Garcia(1991) An aetiological study of 6\u201314\u2010year\u2010old children with severe visual handicap in Hungary.Acta Pediat Hung(in press)."},{"key":"e_1_2_1_4_1","first-page":"181","article-title":"Retinal detachment and encepha\u2010locele","volume":"8","author":"Knobloch WH","year":"1971","journal-title":"J Pediat Ophthal"},{"key":"e_1_2_1_5_1","volume-title":"Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X\u2010Linked Phe\u2010notypcs","author":"McKusick VA","year":"1990"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420605","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420605","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T15:48:42Z","timestamp":1698076122000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4]]},"references-count":4,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1992,4]]}},"alternative-id":["10.1002\/ajmg.1320420605"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420605","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4]]}}}