Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay. - Napier MP; Ryan E; Reich A; Suhl JA; Masser-Frye D; Jones M; Beaudreau C; Robin N; Goodloe D; Folk L; Morrow MM; Carere DA (HGG advances, 2025)