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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Auriane Cospain, Ana Rivera‐Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul‐Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts, Emmanuel Scalais, Thomas Besnard, Benjamin Cogné, Christophe Guissard, Paul Rollier, Wilfrid Carré, Régis Bouvet, Karin Tarte, Ricardo Gómez-Carmona, Pablo Lapunzina, Sylvie Odent, Marie Faoucher, Christèle Dubourg, Víctor L. Ruiz‐Pérez, Koenraad Devriendt, Laurent Pasquier, Luis A. Pérez‐Jurado

2022Genetics in Medicine17 citationsDOIOpen Access PDF

Topics & Concepts

BiologyExonGeneticsMolecular biologyGeneBone and Dental Protein StudiesRNA modifications and cancerGenomics and Rare Diseases
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects | Litcius