A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndrome.
Ishii S, Fujiwara T, Yagi H, Takeda N, Ando M, Yamauchi H, Inuzuka R, Taniguchi Y, Hatano M, Komuro I. Mol Genet Genomic Med. 2023 Dec; 11(12):e2257. Epub 2023 Oct 20.