MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

Parenti I, Diab F, Ruiz Gil S, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T , Gines MM, van Staveren T, van IJcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS
Cell Rep. 2020 May 19;31(7):107647. doi: 10.1016/j.celrep.2020.107647.
https://pubmed.ncbi.nlm.nih.gov/32433956/