Expanding the phenotype of CACNA1C mutation disorders
Abstract
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 as Timothy syndrome. In 2015, a variant in CACNA1C (p.R518C) was reported to cause cardiac-only Timothy syndrome, a genetic disorder with a mixed phenotype of congenital...
Paper Details
Title
Expanding the phenotype of CACNA1C mutation disorders
Published Date
Apr 1, 2021
Volume
9
Issue
6
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