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

We report heterozygous MEF2C loss-of-function as a possible cause of question mark ear associated with intellectual deficiency.
PMID: 28456137 [PubMed - as supplied by publisher]

Source: Clinical Genetics - April 29, 2017 Category: Genetics & Stem Cells Authors: Gordon CT, Tessier A, Demir Z, Goldenberg A, Oufadem M, Voisin N, Pingault V, Bienvenu T, Lyonnet S, de Pontual L, Amiel J Tags: Clin Genet Source Type: research