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Article

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Human mutation - 1 Dec 2015

Micha Dimitra, Guo Dong-Chuan, Hilhorst-Hofstee Yvonne, van Kooten Fop, Atmaja Dian, Overwater Eline, Cayami Ferdy K, Regalado Ellen S, van Uffelen René, Venselaar Hanka, Faradz Sultana M H, Vriend Gerrit, Weiss Marjan M, Sistermans Erik A, Maugeri Alessandra, Milewicz Dianna M, Pals Gerard, van Dijk Fleur S

Abstract excerpt

We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF-β signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26247899
DOI: 10.1002/humu.22854

Genes

SMAD2
SMAD3

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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