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

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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Bibliographic Details
Main Authors: Eva Y. G. De Vilder, Ludovic Martin, Georges Lefthériotis, Paul Coucke, Filip Van Nieuwerburgh, Olivier M. Vanakker
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
pseudoxanthoma elasticum
ABCC6
candidate modifier gene
cardiovascular disease
mixture of effects analysis
C-alpha test
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.612581/full

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https://www.frontiersin.org/articles/10.3389/fcell.2021.612581/full

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