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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
- 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