Publications by authors named "Carla ESSinger"
Clin Epigenetics
May 2020
Article Synopsis
- * Rarely, families with specific variations in the KCNQ1 gene that cause long-QT syndrome (LQTS) also experience this LOM, suggesting a connection between KCNQ1 functions and IC2 methylation.
- * In a study of 52 BWS patients with IC2 LOM, researchers found one case with a significant KCNQ1 variant, reinforcing the idea that KCNQ1 gene activity is
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