{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:41:32Z","timestamp":1762098092897},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5356,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2001,10,1]]},"DOI":"10.1002\/ajmg.1523","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T22:31:19Z","timestamp":1030314679000},"page":"157-159","source":"Crossref","is-referenced-by-count":21,"title":["Possible case of Pitt-Hopkins syndrome in sibs"],"prefix":"10.1002","volume":"103","author":[{"given":"Alfredo","family":"Orrico","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Galli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Zappella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ching-Wan","family":"Lam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Bonifacio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Torricelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Hayek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001]]},"reference":[{"key":"BIB1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s100380070032","volume":"45","author":"Amano","year":"2000","journal-title":"J Hum Genet"},{"key":"BIB2","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ana.410140412","volume":"14","author":"Hagberg","year":"1983","journal-title":"Ann Neurol"},{"key":"BIB3","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1212\/WNL.19.9.813","volume":"19","author":"Joubert","year":"1969","journal-title":"Neurology"},{"key":"BIB4","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1136\/jmg.37.6.401","volume":"37","author":"Knight","year":"2000","journal-title":"J Med Genet"},{"key":"BIB5","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1016\/S0140-6736(99)03070-6","volume":"354","author":"Knight","year":"1999","journal-title":"Lancet"},{"key":"BIB6","first-page":"182","volume":"14","author":"Pitt","year":"1978","journal-title":"Aust Pediatr J"},{"key":"BIB7","first-page":"723","volume":"116","author":"Rett","year":"1966","journal-title":"Wien Med Wochenschr"},{"key":"BIB8","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1111\/j.1440-1754.1993.tb00472.x","volume":"29","author":"Singh","year":"1993","journal-title":"J Paediatr Child Health"},{"key":"BIB9","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1159\/000133903","volume":"68","author":"Therkelsen","year":"1995","journal-title":"Cytogenet Cell Genet"},{"key":"BIB10","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<273::AID-AJMG9>3.0.CO;2-R","volume":"75","author":"Van Balkom","year":"1998","journal-title":"Am J Med Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1523","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/ajmg.1523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T20:15:03Z","timestamp":1625084103000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2001,10,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.1523","relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001]]}}}