Article
A Natural History Study of Timothy Syndrome.
Orphanet journal of rare diseases - 23 Nov 2024
Timothy Katherine W, Bauer Rosemary, Larkin Kerry A, Walsh Edward P, Abrams Dominic J, Gonzalez Corcia Cecilia, Valsamakis Alexandra, Pitt Geoffrey S, Dick Ivy E, Golden Andy
Abstract excerpt
BACKGROUND: Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C. Initially, Timothy syndrome was characterized by a cardiac presentation of long QT syndrome and syndactyly of the fingers and/or toes, all associated with the CACNA1C variant, Gly406Arg. However, subsequent identification of diverse variants in CACNA1C has expanded the clinical spectrum, revealing various cardiac...
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