The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function
CT Gordon, A Tessier, Z Demir, A Goldenberg… - Clinical …, 2018 - Wiley Online Library
CT Gordon, A Tessier, Z Demir, A Goldenberg, M Oufadem, N Voisin, V Pingault, T Bienvenu…
Clinical genetics, 2018•Wiley Online LibraryAuriculocondylar syndrome and isolated question mark ear result from dysregulation of the
endothelin 1‐endothelin receptor type A signaling pathway. Animal models have highlighted
the role of the transcription factor MEF2C as an effector of this pathway. We report
heterozygous MEF2C loss‐of‐function as a possible cause of question mark ear associated
with intellectual deficiency.
endothelin 1‐endothelin receptor type A signaling pathway. Animal models have highlighted
the role of the transcription factor MEF2C as an effector of this pathway. We report
heterozygous MEF2C loss‐of‐function as a possible cause of question mark ear associated
with intellectual deficiency.
Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1‐endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C as an effector of this pathway. We report heterozygous MEF2C loss‐of‐function as a possible cause of question mark ear associated with intellectual deficiency.
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