Timothy syndrome type 1 in Alabama
1 specialist for Timothy syndrome type 1 in Alabama, verified against ClinicalTrials.gov, PubMed, and the NPPES NPI registry.
Timothy syndrome type 1 (TS1), also known as classic Timothy syndrome, is an extremely rare and severe multisystem disorder caused by a specific gain-of-function mutation (p.Gly406Arg) in exon 8A of the CACNA1C gene, which encodes the alpha-1 subunit of the L-type calcium channel Cav1.2. This calcium channel plays a cr…
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Specialists are identified from ClinicalTrials.gov principal investigators, PubMed publications, and the NPI registry, then ranked through an automated scoring pipeline.
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