Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Andrea Accogli, Young Nyun Park, Guy M. Lenk, Mariasavina Severino, Marcello Scala, Jonas Denecke, Maja Hempel, Davor Lessel, Fanny Kortüm, Vincenzo Salpietro, Patrizia De Marco, Sara Guerrisi, Annalaura Torella, Vincenzo Nigro, Myriam Srour, Ernest Turro, Veerle Labarque, Kathleen Freson, Gianluca Piatelli, Valeria Capra, Jacob O. Kitzman, Miriam H. Meisler