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