Expanding the phenotype of CACNA1C mutation disorders

Expanding the phenotype of CACNA1C mutation disorders

Abstract Background Pathogenic variants in the L‐type Ca2+ channel gene CACNA1C cause a multi‐system disorder that includes severe long QT syndrome (LQTS), congenital heart disease, dysmorphic facial features, syndactyly, abnormal immune function, and neuropsychiatric disorders, collectively known a...

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Bibliographic Details
Main Authors: Lindsey Gakenheimer‐Smith, Lindsay Meyers, Derek Lundahl, Shaji C. Menon, T. Jared Bunch, Briana L. Sawyer, Martin Tristani‐Firouzi, Susan P. Etheridge
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
atrial fibrillation
CACNA1C
cardiac‐only Timothy syndrome
sick sinus syndrome
Online Access:https://doi.org/10.1002/mgg3.1673

Internet

https://doi.org/10.1002/mgg3.1673

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