Dufour W, Alawbathani S, Jourdain AS, Asif M, Baujat G, Becker C, Budde B, Gallacher L, Georgomanolis T, Ghoumid J, Hohne W, Lyonnet S, Ba-Saddik IA, Manouvrier-Hanu S, Motameny S, Noegel AA, Pais L, Vanlerberghe C, Wagle P, White SM, Willems M, Nurnberg P, Escande F, Petit F, Hussain MS

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT  signaling.

Genet Med 24:1708-1721 (2022)
DOI:10.1016/j.gim.2022.04.022

Hassan A, Morice-Picard F, Marin V, Lasseaux Robine E, Lebreton L, Davaze-Schneider J

Hypohidrotic ectodermal dysplasia in a family: expanding spectrum of LEF1-related disorders.

Clin Exp Dermatol 49:1725-1726 (2024)
DOI:10.1093/ced/llae293