Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.

Solveig HeideEmanuela ArgilliStéphanie ValenceLucile BoutaudNathalie RouxCyril MignotCaroline NavaBoris KerenKim GiraudatAnne FaudetAnna GerasimenkoCatherine GarelEleonore BlondiauxAgnès RastetterDavid GreventCarolyn LeLisa MackenzieLinda RichardsTania Attié-BitachChristel DepienneElliott SherrDelphine Héron

Published in: Journal of medical genetics (2023)

LoF variants cause dominantly inherited ACC without ID and extends the extraocular phenotype related to this gene.

Keyphrases

copy number
genome wide
epithelial mesenchymal transition
long non coding rna
dna methylation
genome wide identification
signaling pathway
transcription factor
drug induced