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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

Authors :
Ahmed A. Nugud
Nermeen Mahmoud ELkholy
Awad Alkarim Omar
Abid Qazi
Christos Tzivinikos
Nidheesh Chencheri
Sabina Khan
Muhammad Eyad Ba'Ath
Source :
Frontiers in Pediatrics, Vol 9 (2021)
Publication Year :
2021
Publisher :
Frontiers Media S.A., 2021.

Abstract

Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still

Details

Language :
English
ISSN :
22962360
Volume :
9
Database :
Directory of Open Access Journals
Journal :
Frontiers in Pediatrics
Publication Type :
Academic Journal
Accession number :
edsdoj.06d870e9e01842f798cbec3674024694
Document Type :
article
Full Text :
https://doi.org/10.3389/fped.2021.634655