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The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

C T Gordon1,2, A Tessier1,2, Z Demir3

  • 1Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

Clinical Genetics
|April 30, 2017
PubMed

Keywords:
MEF2Cauriculocondylar syndromecraniofacial developmentendothelin pathwayintellectual deficiencymandibulofacial dysostosisquestion mark ear

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