Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenomatous Polyposis Coli
Share to Child
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Syndrome

Share to Telangiectasia, Hereditary Hemorrhagic

Share to Tomography, X-Ray Computed

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20012952-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes.PMID 20012952Read ↗

Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.Semantic proximity Read ↗

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).Semantic proximity Read ↗

SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience.Semantic proximity Read ↗

The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.Semantic proximity Read ↗

A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome.Semantic proximity Read ↗

Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.Semantic proximity Read ↗

Acute aortic dissection in a patient with Hereditary Hemorrhagic Telangiectasia associated with Juvenile Polyposis due to SMAD4 mutation: case report and literature review.Semantic proximity Read ↗

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.Semantic proximity Read ↗

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.Semantic proximity Read ↗

Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.Semantic proximity Read ↗

Phenotypic characterisation of SMAD4 variant carriers.Semantic proximity Read ↗

An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.