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

Thorax10.00
Volume: 74, Issue: 2, Pages: 203 - 205
Published: Aug 30, 2018
Abstract
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 totalis. Patients with biallelic...
Paper Details
Title
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Published Date
Aug 30, 2018
Journal
Volume
74
Issue
2
Pages
203 - 205
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