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

Frontiers in Pediatrics

Nidheesh Chencheri¹  Sabina Khan¹  Awad Alkarim Omar¹  Nermeen Mahmoud ELkholy¹  Ahmed A. Nugud¹  Abid Qazi¹  Muhammad Eyad Ba'Ath²  Christos Tzivinikos² 

[1] Al Jalila Children's Speciality Hospital, Dubai, United Arab Emirates;Al Jalila Children's Speciality Hospital, Dubai, United Arab Emirates;Department of Clinical Sciences, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates;

关键词: CACNA1C mutation;    Timothy syndrome;    Segmental Ileal Dilatation;    syndactyly;    long QT syndrome;    seizure disorder;   

DOI  :  10.3389/fped.2021.634655

来源: Frontiers

【 授权许可】

CC BY