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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
; 188(10): 3084-3088, 2022 10.
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| MEDLINE | ID: mdl-35869926
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