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Animal models have highlighted the role of the transcription factor <jats:styled-content style=\"fixed-case\">MEF2C<\/jats:styled-content> as an effector of this pathway. We report heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">MEF2C<\/jats:styled-content><\/jats:italic> loss\u2010of\u2010function as a possible cause of question mark ear associated with intellectual deficiency.<\/jats:p>","DOI":"10.1111\/cge.13046","type":"journal-article","created":{"date-parts":[[2017,4,29]],"date-time":"2017-04-29T21:14:29Z","timestamp":1493500469000},"page":"356-359","source":"Crossref","is-referenced-by-count":9,"title":["The association of severe encephalopathy and question mark ear is highly suggestive of loss of <i><scp>MEF2C<\/scp><\/i> function"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9300-8399","authenticated-orcid":false,"given":"C.T.","family":"Gordon","sequence":"first","affiliation":[{"name":"Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) UMR 1163 Institut <i>Imagine<\/i>  Paris 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