SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling - Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T; Maroofian, Reza; Beetz, Christian; Duyvenvoorde, Hermine van; Dentici, Maria Lisa; Jorge, Alexander Augusto de Lima (American journal of human genetics, 2021)