Phenotypic characterisation of SMAD4 variant carriers
Phenotypic characterisation of SMAD4 variant carriers
About this item
Full title
Author / Creator
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundBoth 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 been reported. Here, we describe carriers of SMAD4 variants followed in an HHT referenc...
Alternative Titles
Full title
Phenotypic characterisation of SMAD4 variant carriers
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11287639
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11287639
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg-2023-109632
