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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| 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 |