Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis

Introduction: Pseudoxanthoma elasticum (PXE), an ectopic mineralization disorder caused by pathogenic ABCC6 variants, is characterized by skin, ocular and cardiovascular (CV) symptoms. Due to striking phenotypic variability without genotype-phenotype correlations, modifier genes are thought to play...

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Detalles Bibliográficos
Autores principales: De Vilder, Eva Y. G., Martin, Ludovic, Lefthériotis, Georges, Coucke, Paul, Van Nieuwerburgh, Filip, Vanakker, Olivier M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8218811/
https://www.ncbi.nlm.nih.gov/pubmed/34169069
http://dx.doi.org/10.3389/fcell.2021.612581

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