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Update on the Molecular Genetics of Timothy Syndrome

Timothy Syndrome (TS) (OMIM #601005) is a rare autosomal dominant syndrome caused by variants in CACNA1C, which encodes the α1C subunit of the voltage-gated calcium channel Ca(v)1.2. TS is classically caused by only a few different genetic changes and characterized by prolonged QT interval, syndacty...

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Detalles Bibliográficos
Autores principales:	Bauer, Rosemary, Timothy, Katherine W., Golden, Andy
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/PMC8165229/ https://www.ncbi.nlm.nih.gov/pubmed/34079780 http://dx.doi.org/10.3389/fped.2021.668546

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