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

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 refrac...

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Detalles Bibliográficos
Autores principales: Nugud, Ahmed A., ELkholy, Nermeen Mahmoud, Omar, Awad Alkarim, Qazi, Abid, Tzivinikos, Christos, Chencheri, Nidheesh, Khan, Sabina, Ba'Ath, Muhammad Eyad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110704/
https://www.ncbi.nlm.nih.gov/pubmed/33987151
http://dx.doi.org/10.3389/fped.2021.634655

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110704/
https://www.ncbi.nlm.nih.gov/pubmed/33987151
http://dx.doi.org/10.3389/fped.2021.634655

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