An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088.