Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.

doi:10.1136/thoraxjnl-2018-212104

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Article

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.

Thorax - 1 Feb 2019

Best Sunayna, Shoemark Amelia, Rubbo Bruna, Patel Mitali P, Fassad Mahmoud R, Dixon Mellisa, Rogers Andrew V, Hirst Robert A, Rutman Andrew, Ollosson Sarah, Jackson Claire L, Goggin Patricia, Thomas Simon, Pengelly Reuben, Cullup Thomas, Pissaridou Eleni, Hayward Jane, Onoufriadis Alexandros, O'Callaghan Christopher, Loebinger Michael R, Wilson Robert, Chung Eddie Mk, Kenia Priti, Doughty Victoria L, Carvalho Julene S, Lucas Jane S, Mitchison Hannah M, Hogg Claire

Abstract excerpt

Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype-phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30166424
DOI: 10.1136/thoraxjnl-2018-212104

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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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