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Article

Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.

Journal of pediatric gastroenterology and nutrition - 1 Jan 2012

Schwenter Frank, Ratjen Felix, Berk Terri, Gallinger Steve, Gryfe Rob, Gradinger Abigail B, Faughnan Marie E, Durno Carol A

Abstract excerpt

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Topics

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Share to Adolescent
Share to SMAD4 gene
Share to Intestinal Polyposis
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neoplastic Syndromes, Hereditary

Share to Smad4 Protein

Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 21572342
DOI: 10.1097/MPG.0b013e3182238514

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

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Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.PMID 21572342Read ↗

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

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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 ↗

Phenotypic characterisation of SMAD4 variant carriers.Semantic proximity Read ↗

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

SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

A review of juvenile polyposis syndrome.Semantic proximity Read ↗

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriersSemantic proximity Read ↗

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4Semantic proximity Read ↗

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

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