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Results 1 - 2 of 2 for Timothy syndrome type 2
  1. Timothy syndrome 
    ... birth.Variants in the CACNA1C gene that cause Timothy syndrome change the structure of CaV1.2 channels. These gene changes lead to altered channels ... SG, Sanguinetti MC, Keating MT. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including ... Citation on PubMed
    https://medlineplus.gov/genetics/condition/timothy-syndrome - Genetics
  2. Ankyrin-B syndrome 
    ... Marec H, Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia ... V. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc ...
    https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome - Genetics