Early onset multivalvular disease caused by a missense variant in lamin A/C

Early onset multivalvular disease caused by a missense variant in lamin A/C

Summary: Lamins A/C, coded by LMNA gene, are crucial for nuclear architecture preservation. Pathogenic LMNA variants cause a wide range of inherited diseases called “laminopathies”. A subgroup is referred to “progeroid syndromes” characterized by premature aging and other manifestations including ca...

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Main Authors: Alexandre Janin, Nathalie Gaudreault, Victoria Saavedra Armero, Zhonglin Li, Ran Xu, Dominique K. Boudreau, Lily Frenette, Julien Ternacle, Danielle Tardif, Sébastien Thériault, Philippe Pibarot, Patrick Mathieu, Christian Steinberg, Yohan Bossé
Format: Article
Language:English
Published: Elsevier 2025-10-01
Series:HGG Advances
Subjects:
lamin A/C
multivalvular disease
whole exome sequencing
family study
functional study
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000946
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