학술논문
FOSL2truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Document Type
Article
Author
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; Keung Lam, Wayne Wing; Van Den Bogaert, Kris; Boogaerts, Anneleen; Scalais, Emmanuel; Besnard, Thomas; Cogne, Benjamin; Guissard, Christophe; Rollier, Paul; Carre, Wilfrid; Bouvet, Regis; Tarte, Karin; Gómez-Carmona, Ricardo; Lapunzina, Pablo; Odent, Sylvie; Faoucher, Marie; Dubourg, Christele; Ruiz-Pérez, Víctor L.; Devriendt, Koen; Pasquier, Laurent; Pérez-Jurado, Luis A.
Source
Genetics in Medicine; December 2022, Vol. 24 Issue: 12 p2475-2486, 12p
Subject
Language
ISSN
10983600; 15300366
Abstract
We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex.