Cornelia-de-Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
G. Olley, M. M. Pradeepa, D. R. FitzPatrick, W. A. Bickmore, C. Boumendil
This study shows that BRD4 mutations linked to Cornelia de Lange Syndrome impair DNA damage signalling and repair, and similar effects are observed in NIPBL-deficient cells.
bioRxiv · May 9, 2019Cell Biology