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

• Главные авторы: Ahmed A. Nugud (Автор), Nermeen Mahmoud ELkholy (Автор), Awad Alkarim Omar (Автор), Abid Qazi (Автор), Christos Tzivinikos (Автор), Nidheesh Chencheri (Автор), Sabina Khan (Автор), Muhammad Eyad Ba'Ath (Автор)
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• Опубликовано: Frontiers Media S.A., 2021-04-01T00:00:00Z.
• Предметы: article
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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...