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Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C

Ahmed A Nugud1, Nermeen Mahmoud ELkholy1, Awad Alkarim Omar1

  • 1Al Jalila Children's Speciality Hospital, Dubai, United Arab Emirates.

Frontiers in Pediatrics
|May 14, 2021
PubMed

Keywords:
CACNA1C mutationSegmental Ileal DilatationTimothy syndromelong QT syndromeseizure disordersyndactyly

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