Article

A Natural History Study of Timothy Syndrome

2024-05-21

Abstract excerpt

<h4>ABSTRACT</h4> Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C . Timothy syndrome patients were first identified as having a cardiac presentation of Long QT and syndactyly of the fingers and/or toes, and an identical variant in CACNA1C , Gly406Arg. However, since this original identification, more individuals harboring diverse variants in CACNA1C have been identified and...

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Literature Corpus work: a598ccd1-ecf8-5d71-95e1-a1773de28b9f
DOI: 10.1101/2024.05.20.24307583

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