Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
William Dufour, Salem Alawbathani, Anne‐Sophie Jourdain, Maria Asif, Geneviève Baujat, Christian Becker, Birgit Budde, Lyndon Gallacher, Theodoros Georgomanolis, Jamal Ghoumid, Wolfgang Höhne, Stanislas Lyonnet, Iman Ali Ba-Saddik, Sylvie Manouvrier-Hanu, Susanne Motameny, Angelika A. Noegel, Lynn Pais, Clémence Vanlerberghe, Prerana Wagle, Susan M. White, Marjolaine Willems, Peter Nürnberg, Fabienne Escande, Florence Petit, Muhammad Sajid Hussain
Topics & Concepts
Ectodermal dysplasiaHaploinsufficiencyPhenotypeWnt signaling pathwayGeneticsBiologyExome sequencingHomeoboxTranscription factorGeneWnt/β-catenin signaling in development and cancerdental development and anomaliesDevelopmental Biology and Gene Regulation