Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation. https://t.co/QPN0wbdugD #longqt #cardiotwitter #epeeps

It's NOT a TS Type 1 but a different mutation presenting some of the cardiac changes seen in TS1&2. 🤔Could there be more to this #CACNA1C gene than previously published? 💯

New Research: Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation: Background: Long QT syndactyly syndrome (long QT syndrome type… https://t.co/