{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T18:22:36Z","timestamp":1783275756486,"version":"3.54.6"},"reference-count":15,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre\u2010 and post\u2010natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the <jats:italic>GJA1<\/jats:italic> (<jats:italic>Cx43<\/jats:italic>) gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32400","type":"journal-article","created":{"date-parts":[[2008,6,14]],"date-time":"2008-06-14T02:19:04Z","timestamp":1213409944000},"page":"1848-1852","source":"Crossref","is-referenced-by-count":11,"title":["Filippi syndrome: Further clinical characterization"],"prefix":"10.1002","volume":"146A","author":[{"given":"Agatino","family":"Battaglia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Filippi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Pusceddu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles A.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,6,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220416"},{"key":"e_1_2_6_3_1","first-page":"343","article-title":"Filippi syndrome: A specific MCA\/MR complex within the spectrum of so called \u201ccraniodigital syndromes\u201d. Report of an additional patient with a peculiar mpp and review of the literature","volume":"13","author":"Franceschini P","year":"2002","journal-title":"Genet Couns"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199601000-00005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.8.659"},{"key":"e_1_2_6_6_1","first-page":"147","article-title":"Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome: Report on a second family","volume":"4","author":"Meinecke P","year":"1993","journal-title":"Genet Couns"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02540.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/346090"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012005"},{"key":"e_1_2_6_10_1","first-page":"441","article-title":"Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation","volume":"13","author":"Schorderet DF","year":"2002","journal-title":"Genet Couns"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200410000-00004"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550210"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199910000-00001"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991119)87:2<128::AID-AJMG3>3.0.CO;2-T"},{"key":"e_1_2_6_15_1","first-page":"500","article-title":"Three sibs with phalangeal anomalies, micro\u2010cephaly, severe mental retardation and neurological abnormalities","volume":"29","author":"Woods CG","year":"1992","journal-title":"J Med Genet"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.4.269"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32400","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32400","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:53:22Z","timestamp":1699966402000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32400"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,13]]},"references-count":15,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2008,7,15]]}},"alternative-id":["10.1002\/ajmg.a.32400"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32400","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,13]]}}}