Not logged inFOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Cospain, Auriane; Rivera-Barahona, Ana; Dumontet, Erwan; Gener, Blanca; Bailleul-Forestier, Isabelle; Meyts, Isabelle; Jouret, Guillaume; Isidor, Bertrand; Brewer, Carole; Wuyts, Wim; Moens, Leen; Delafontaine, Selket; Lam, Wayne Wing Keung; Van den Bogaert, Kris; Boogaerts, Anneleen; Scalais, Emmanuel; Besnard, Thomas; Cogne, Benjamin; Guissard, Christophe; Rollier, Paul; Carre, Wilfrid; Bouvet, Regis; Tarte, Karin; Gomez-Carmona, Ricardo; Lapunzina, Pablo; Odent, Sylvie; Faoucher, Marie; Dubourg, Christele; Ruiz-Perez, Victor L.; Devriendt, Koen; Pasquier, Laurent; Perez-Jurado, Luis A.
Share
SaveLoss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Cuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin
Share
Save