FOSL2 truncating variants in the last exon cause a new neurodevelopmental disorder with scalp and enamel defects: description of 10 patients
Auriane Cospain,Ana Rivera-Barahona, Erwan Dumontet,Isabelle Bailleul-Forestier,Isabelle Meyts,Guillaume Jouret,Blanca Gener Querol,Bertrand Isidor,Carole Brewer,Wim Wuyts,Leen Moens,Selket Delafontaine, Wayne Lam,Kris Van Den Bogaert,Anneleen Boogaerts,Emmanuel Scalais,Thomas Besnard,Benjamin Cogne,Christophe Guissard,Paul Rollier,Wilfrid Carre,Regis Bouvet, Karine Tarte, Ricardo Gomez-Carmona,Victor L. Ruiz-Perez,Pablo Lapunzina,Sylvie Odent,Christele Dubourg,Koenraad Devriendt,Laurent Pasquier,Luis Perez-Jurado EUROPEAN JOURNAL OF HUMAN GENETICS(2023)
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