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 Cav1.2. TS is classically caused by only a few different genetic changes and characterized by prolonged QT interval, syndactyly...
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| Main Authors: | , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |