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Article

Phenotypic characterisation of SMAD4 variant carriers.

Journal of medical genetics - 19 Jul 2024

Caillot Claire, Saurin Jean-Christophe, Hervieu Valérie, Faoucher Marie, Reversat Julie, Decullier Evelyne, Poncet Gilles, Bailly Sabine, Giraud Sophie, Dupuis-Girod Sophie

Abstract excerpt

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 been reported. Here, we describe carriers of SMAD4 variants followed in an HHT reference centre to further delineate the phenotype. METHODS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 38575304
DOI: 10.1136/jmg-2023-109632
PMCID: PMC11287639

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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