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Article

Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes.

Pediatric radiology - 1 Jul 2010

Poletto Erica D, Trinh Angela M, Levin Terry L, Tsirilakis Kalliope, Loizides Anthony M

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is a syndrome characterized by multiorgan telangiectases and arteriovenous malformations. A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis (JPS). We present one such family. Genetic testing is warranted when either HHT or JPS is diagnosed, as early...

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Identifiers

PMID: 20012952
DOI: 10.1007/s00247-009-1482-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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