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. Universidad de Zaragoza 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. 2026 research-article