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

• Main Authors: Ahmed A. Nugud (Author), Nermeen Mahmoud ELkholy (Author), Awad Alkarim Omar (Author), Abid Qazi (Author), Christos Tzivinikos (Author), Nidheesh Chencheri (Author), Sabina Khan (Author), Muhammad Eyad Ba'Ath (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature. The full spectrum of the syndrome is not yet known.Results: Here we report a girl who presented with new onset refract...