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

• Autores principales: Ahmed A. Nugud (Autor), Nermeen Mahmoud ELkholy (Autor), Awad Alkarim Omar (Autor), Abid Qazi (Autor), Christos Tzivinikos (Autor), Nidheesh Chencheri (Autor), Sabina Khan (Autor), Muhammad Eyad Ba'Ath (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2021-04-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...