![New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome]()
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle SyndromePacault, Mathilde; Vincent, Marie; Besnard, Thomas; Kannengiesser, Caroline; Bénéteau, Claire; Barbarot, Sébastien; Latypova, Xénia; Belabbas, Khaldia; Lamazière, Antonin; Winer, Norbert; Joubert, Madeleine; Bézieau, Stéphane; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Leclerc-Mercier, Stéphanie; Hadj-Rabia, Smail; Dufernez, Fabienne · European Journal of Human Genetics · 2018