Article

Timothy Syndrome and Torsades De Pointes in a Newborn - Case Report

2022-04-01

Abstract excerpt

Timothy syndrome (TS) is a rare multisystem disease has a characterized association of long QT syndrome (LQTS) type-8 with the congenital cardiac and extracardiac malformations (neurological and dysmorphic facial features, syndactyly). It is caused by heterozygous mutations in the CACNA 1C gene, which participates in decoding the calcium channels. In this study, we describe a case of TS, which has systemic phenoty...

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Literature Corpus work: 6517c5f7-2409-566d-8c65-ef502f4acc49
DOI: 10.21203/rs.3.rs-1495905/v1

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