{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:29:50Z","timestamp":1792513790098,"version":"4.5.0"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,5,31]],"date-time":"2012-05-31T00:00:00Z","timestamp":1338422400000},"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":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Microcephaly\u2013lymphedema\u2013chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in <jats:italic>KIF11<\/jats:italic> have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of <jats:italic>KIF11<\/jats:italic>. The patient also had midline cleft tongue which has not previously been described in this syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35371","type":"journal-article","created":{"date-parts":[[2012,5,31]],"date-time":"2012-05-31T18:33:40Z","timestamp":1338489220000},"page":"1686-1689","source":"Crossref","is-referenced-by-count":22,"title":["A novel <i>KIF11<\/i> mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family"],"prefix":"10.1002","volume":"158A","author":[{"given":"Filiz","family":"Hazan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Ostergaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylan","family":"Ozturk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esin","family":"Kantekin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fusun","family":"Atlihan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Jeffery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferda","family":"Ozkinay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,31]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530202"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.85.4.496d"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.01161.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430623"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04072.x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1109313"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199601000-00007"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02047.x"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<215::AID-AJMG4>3.0.CO;2-E"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.018"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2005.22424.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200507000-00001"}],"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.35371","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35371","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:57:05Z","timestamp":1697615825000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35371"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,31]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1002\/ajmg.a.35371"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35371","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,31]]}}}