“…For SMAD3 , 40 variants were previously reported (Aubart et al., ; Berthet, Hanna, Giraud, & Soubrier, ; Blinc et al., ; Burke, Shalhub, & Starnes, ; Campens et al., ; Courtois et al., ; Fitzgerald, Bhat, Conard, Hyland, & Pizarro, ; Garcia‐Bermudez, Moustafa, Barros‐Membrilla, & Tizon‐Marcos, ; Haller et al., ; Hilhorst‐Hofstee et al., ; Martens et al., ; Nevidomskyte et al., ; Proost et al., ; Regalado et al., ; Schubert, Landis, Shikany, Hinton, & Ware, ; van de Laar et al., ; van de Laar et al., ; van der Linde et al., ; Wischmeijer et al., ; Yao et al., ; Ye et al., ; Zhang et al., ), whereas 38 probands were identified in this study, with 27 mutations that have never been reported (Table and Figure ). These SMAD3 mutations include 61% missense mutations, 23% frameshift mutations, 7% nonsense mutations, 6% splice site mutations, and 3% whole or partial gene deletions (Figure ).…”