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Article

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.

BMC genetics - 19 Jun 2013

Palomino Doza Julian, Topf Ana, Bentham Jamie, Bhattacharya Shoumo, Cosgrove Catherine, Brook J David, Granados-Riveron Javier, Bu'Lock Frances A, O'Sullivan John, Stuart A Graham, Parsons Jonathan, Relton Caroline, Goodship Judith, Henderson Deborah J, Keavney Bernard

Abstract excerpt

BACKGROUND: Epidemiological studies indicate a substantial excess familial recurrence of non-syndromic Tetralogy of Fallot (TOF), implicating genetic factors that remain largely unknown. The Rho induced kinase 1 gene (ROCK1) is a key component of the planar cell polarity signalling pathway, which plays an important role in normal cardiac development. The aim of this study was to investigate the role of genetic...

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Identifiers

PMID: 23782575
DOI: 10.1186/1471-2156-14-57
PMCID: PMC3734041

Genes

ROCK1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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