GeneticsbioRxivPreprint
Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder
Yukiko Kuroda, Aiko Iwata‐Otsubo, Kerith‐Rae Dias…·Kosuke Izumi
This study identifies de novo CBX1 variants in three individuals with neurodevelopmental features and shows they cause dominant-negative effects by disrupting HP1β chromatin binding.
DOI 10.1101/2020.09.29.319228