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Gheewalla, G. et al. (2022). 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. American journal of medical genetics. 188 (10), pp. 3084-3088. [Online].