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Primary cilia defects causing mitral valve prolapse

22 May 2019

Abstract excerpt

A mouse model harboring this variant confirmed the pathogenicity of this mutation and revealed impaired ciliogenesis during development, which progressed to adult myxomatous valve disease and functional MVP. Relevance of primary cilia in common forms of MVP was tested using pathway enrichment in a large population of patients with MVP and controls from previously generated genome-wide association studies (GWAS),...

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PMID: 31118289
DOI: 10.1126/scitranslmed.aax0290

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