GeneticsHuman Molecular GeneticsPeer-reviewed
Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial Syndrome with a variant in ACTB
Takayuki Tsujimoto, Yushi Ou, Makoto Suzuki…·Hiroshi Kurosaka
This study identifies a variant in the ACTB gene associated with orofacial clefts in BWCFF and shows it impairs actin dynamics and epithelial cell function.
2 citations