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Article

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.

American journal of medical genetics. Part A - 1 Jan 2013

Teekakirikul Polakit, Milewicz Dianna M, Miller David T, Lacro Ronald V, Regalado Ellen S, Rosales Ana Maria, Ryan Daniel P, Toler Tomi L, Lin Angela E

Abstract excerpt

Dilation or aneurysm of the ascending aorta can progress to acute aortic dissection (Thoracic Aortic Aneurysms and Aortic Dissections, TAAD). Mutations in genes encoding TGF-β-related proteins (TGFBR1, TGFBR2, FBN1, and SMAD3) cause syndromic and inherited TAAD. SMAD4 mutations are associated with juvenile polyposis syndrome (JPS) and a combined JPS-hereditary hemorrhagic telangiectasia (HHT) known as JPS-HHT. A...

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Share to Aortic Aneurysm, Thoracic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intestinal Polyposis

Share to Receptor, Transforming Growth Factor-beta Type I

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Share to Telangiectasia, Hereditary Hemorrhagic

Source

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Identifiers

PMID: 23239472
DOI: 10.1002/ajmg.a.35659
PMCID: PMC3535513

Genes

SMAD4
FBN1
SMAD3
TGFBR1
TGFBR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.PMID 23239472Read ↗

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