article_metadata: Ahmed A Nugud Nermeen Mahmoud ELkholy Awad Alkarim Omar Abid Qazi Christos Tzivinikos Nidheesh Chencheri Sabina Khan Muhammad Eyad Ba'Ath
article_metadata: 10.3389/fped.2021.634655
article_metadata: Front Pediatr
article_metadata: 2021 Apr 27;9:634655.
article_metadata: cacna1c mutation segmental ileal dilatation timothy syndrome long qt syndrome seizure disorder syndactyly
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33987151/
article_metadata: Case Reports
article_metadata: PMC8110704
article_metadata: 33987151
article_metadata: 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
article_metadata: 2021