Journal
CLINICAL GENETICS
Volume 93, Issue 2, Pages 356-359Publisher
WILEY
DOI: 10.1111/cge.13046
Keywords
auriculocondylar syndrome; craniofacial development; endothelin pathway; intellectual deficiency; mandibulofacial dysostosis; MEF2C; question mark ear
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Funding
- Universite Sorbonne Paris-Cite Pole de recherche et d'enseignement superieur grant [SPC/JFG/2013-031]
- ANR CranioRespiro
- E-Rare CRANIRARE grant
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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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