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Article

Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.

European journal of human genetics : EJHG - 1 Jun 2024

Pearson Madeline, McGowan Ruth, Greene Philip, Lam Wayne, Miedzybrodzka Zofia, Berg Jonathan

Abstract excerpt

Constitutional loss of SMAD4 function results in Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia Overlap Syndrome (JP-HHT). A retrospective multi-centre case-note review identified 28 patients with a pathogenic SMAD4 variant from 13 families across all Scottish Clinical Genetics Centres. This provided a complete clinical picture of the Scottish JP-HHT cohort. Colonic polyps were identified in 87%...

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Source

Open in PubMed Open full text

Identifiers

PMID: 38627541
DOI: 10.1038/s41431-024-01607-w
PMCID: PMC11153582

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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