Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.

Hiroko ShimboTakayuki YokoiNoriko AidaSeiji MizunoHiroshi SuzumuraJunichi NagaiKazumi IdaYumi EnomotoChihiro HatanoKenji Kurosawa

Published in: Molecular genetics & genomic medicine (2017)

The zinc finger transcription factor BCL11A associated with the BAF chromatin remodeling complex has been identified to be critical for neural development and BCL11A haploinsufficiency is closely related to cerebellar abnormalities.

Keyphrases

transcription factor
gene expression
case report
genome wide
oxidative stress