Article
Ciliopathies in Complex Congenital Heart Disease: Molecular Genetics, Embryologic Mechanisms and Clinical Implications.
Genes - 19 May 2026
Gagliardi Maria Felicia, Micaglio Emanuele, Micheletti Angelo, Benedetti Sara, Giordano Andrea, Alonzo Baldassare Maria, Guglielmi Giulia, Negura Diana Gabriela, Giamberti Alessandro, Chessa Massimo
Abstract excerpt
Background/Objectives: Congenital heart malformations (CHDs) are not rare diseases, and, in many cases, their pathogenic mechanisms are well established. Several conotruncal defects are associated with genetic syndromes such as DiGeorge syndrome and RASopathies, reflecting shared developmental pathways affecting cardiac outflow tract formation. However, even common CHDs may occur within complex syndromic...
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