@article{Parenti:170395,
author = "Parenti, Ilaria and Hesters, Alina and Gil-Salvador, Marta
and Duffy, Laura and Kanber, Deniz and Beygo, Jasmin and
Kerkhof, Jennifer and Steenpaß, Laura and Leitão, Elsa
and Woestefeld, Julia and Boone, Philip M. and Kao, Emeline
M. and Alabdi, Lama and Aldhalaan, Hesham M. and Alkuraya,
Fowzan S. and Alshammari, Muneera J. and Antonarakis,
Stylianos E. and Basel, Donald and Cassinari, Kevin and de
Polli Cellin, Laurana and Clause, Amanda R. and de Lima
Jorge, Alexander Augusto and de Castro Leal, Andréa and
Collins, Stephan C. and Durand, Benjamin and Eckhold,
Juliane and Hashem, Mais O. and Jayakar, Parul and Khan,
Arif O. and Kato, Kohji and Kubica, Regina and Lyon,
Gholson J. and Marchi, Elaine and McCarrier, Julie and
Kimmig, Lara K. and Mizuno, Seiji and Nicolas, Gael and
Nishio, Yosuke and Ogi, Tomoo and Pié, Juan and Prell,
Jordyn and Puisac, Beatriz and Ramos, Feliciano J. and
Ranza, Emmanuelle and Redin, Claire and Rush, Eric and
Saitoh, Shinji and Shamseldin, Hanan E. and Starling, Susan
and Astiazaran-Symonds, Esteban and Eltahir, Sara H. and
Kuechler, Alma and Sadikovic, Bekim and Yalcin, Binnaz and
Wendt, Kerstin S. and Kaiser, Frank J.",
title = "{Pathogenic variants in the cohesin loader subunit MAU2
underlie a distinct Cornelia de Lange Syndrome subtype}",
year = "2026",
}