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

Autor:	C T, Gordon, A, Tessier, Z, Demir, A, Goldenberg, M, Oufadem, N, Voisin, V, Pingault, T, Bienvenu, S, Lyonnet, L, de Pontual, J, Amiel
Rok vydání:	2017
Předmět:	Male Brain Diseases Phenotype Loss of Function Mutation MEF2 Transcription Factors Child Preschool Humans Infant Ear Genetic Predisposition to Disease Ear Diseases Genetic Association Studies Pedigree
Zdroj:	Clinical genetics. 93(2)
ISSN:	1399-0004
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::62cfba2f7fbd1ab5de0ece1c9793c6a6 https://pubmed.ncbi.nlm.nih.gov/28456137 Zobrazit plný text záznamu Plný text