Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype

Parenti, Ilaria Hesters, Alina Gil-Salvador, Marta Duffy, Laura Kanber, Deniz Beygo, Jasmin Kerkhof, Jennifer Steenpaß, Laura Leitão, Elsa Woestefeld, Julia Boone, Philip M. Kao, Emeline M. Alabdi, Lama Aldhalaan, Hesham M. Alkuraya, Fowzan S. Alshammari, Muneera J. Antonarakis, Stylianos E. Basel, Donald Cassinari, Kevin de Polli Cellin, Laurana Clause, Amanda R. de Lima Jorge, Alexander Augusto de Castro Leal, Andréa Collins, Stephan C. Durand, Benjamin Eckhold, Juliane Hashem, Mais O. Jayakar, Parul Khan, Arif O. Kato, Kohji Kubica, Regina Lyon, Gholson J. Marchi, Elaine McCarrier, Julie Kimmig, Lara K. Mizuno, Seiji Nicolas, Gael Nishio, Yosuke Ogi, Tomoo Pié, Juan Prell, Jordyn Puisac, Beatriz Ramos, Feliciano J. Ranza, Emmanuelle Redin, Claire Rush, Eric Saitoh, Shinji Shamseldin, Hanan E. Starling, Susan Astiazaran-Symonds, Esteban Eltahir, Sara H. Kuechler, Alma Sadikovic, Bekim Yalcin, Binnaz Wendt, Kerstin S. Kaiser, Frank J. Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype

10.1038/s41467-026-71177-6 2026

2026