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The Role of Cilia and the Complex Genetics of Congenital Heart Disease.

Annual review of genomics and human genetics - 1 Aug 2024

Gabriel George C, Ganapathiraju Madhavi, Lo Cecilia W

Abstract excerpt

Congenital heart disease (CHD) can affect up to 1% of live births, and despite abundant evidence of a genetic etiology, the genetic landscape of CHD is still not well understood. A large-scale mouse chemical mutagenesis screen for mutations causing CHD yielded a preponderance of cilia-related genes, pointing to a central role for cilia in CHD pathogenesis. The genes uncovered by the screen included genes that...

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PMID: 38724024
DOI: 10.1146/annurev-genom-121222-105345

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