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

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 ref...

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Bibliographic Details
Main Authors: Ahmed A. Nugud, Nermeen Mahmoud ELkholy, Awad Alkarim Omar, Abid Qazi, Christos Tzivinikos, Nidheesh Chencheri, Sabina Khan, Muhammad Eyad Ba'Ath
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Pediatrics
Subjects:
CACNA1C mutation
Timothy syndrome
Segmental Ileal Dilatation
syndactyly
long QT syndrome
seizure disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.634655/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.634655/full

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