{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:12:36Z","timestamp":1791349956159,"version":"4.3.1"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,2,27]],"date-time":"2010-02-27T00:00:00Z","timestamp":1267228800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2010,11]]},"abstract":"<jats:p>Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, dalla Bernardina B, Zuffardi O, Van Esch H. Refining the phenotype associated with <jats:italic>MEF2C<\/jats:italic> haploinsufficiency.<\/jats:p><jats:p>Recently, submicroscopic deletions of the 5q14.3 region have been described in patients with severe mental retardation (MR), stereotypic movements, epilepsy and cerebral malformations. Further delineation of a critical region of overlap in these patients pointed to <jats:italic>MEF2C<\/jats:italic> as the responsible gene. This finding was further reinforced by the identification of a nonsense mutation in a patient with a similar phenotype. In brain, <jats:italic>MEF2C<\/jats:italic> is essential for early neurogenesis, neuronal migration and differentiation. Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the <jats:italic>MEF2C<\/jats:italic> gene. This finding strengthens the role of this gene in severe MR, and enables further delineation of the clinical phenotype.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2010.01413.x","type":"journal-article","created":{"date-parts":[[2010,2,27]],"date-time":"2010-02-27T17:06:31Z","timestamp":1267290391000},"page":"471-477","source":"Crossref","is-referenced-by-count":92,"title":["Refining the phenotype associated with <i>MEF2C<\/i> haploinsufficiency"],"prefix":"10.1111","volume":"78","author":[{"given":"F","family":"Novara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Beri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Giorda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Ortibus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Nageshappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Darra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Dalla Bernardina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Van Esch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,2,27]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069732"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000336339.08878.2d"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.90"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0802876105"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0802679105"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1122511"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1122513"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.323.5911.208b"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1157657"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2010.01413.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2010.01413.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T16:20:47Z","timestamp":1698769247000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2010.01413.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,27]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["10.1111\/j.1399-0004.2010.01413.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01413.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,27]]}}}