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Article

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

American journal of medical genetics. Part A - 1 Oct 2010

Milewicz Dianna M, Østergaard John R, Ala-Kokko Leena M, Khan Nadia, Grange Dorothy K, Mendoza-Londono Roberto, Bradley Timothy J, Olney Ann Haskins, Adès Lesley, Maher Joseph F, Guo Dongchuan, Buja L Maximilian, Kim Dong, Hyland James C, Regalado Ellen S

Abstract excerpt

Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression of the SMC i...

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Source

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Identifiers

PMID: 20734336
DOI: 10.1002/ajmg.a.33657
PMCID: PMC3573757

Genes

ACTA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20734336-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.PMID 20734336Read ↗

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