Phenotypic characterisation of SMAD4 variant carriers
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DOI: 10.1136/jmg-2023-109632
Abstract: Background Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by SMAD4 pathogenic variants, with overlapping symptoms for both disorders in some patients. Additional connective tissue disorders have also… read more here.
Keywords: smad4 variant; connective tissue; variant carriers; juvenile polyposis ... See more keywords