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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Congenital long-QT syndrome in Addison's disease: a novel association
Sean M Lang1, Nancy L Rollinson, Steven B Fishberger
1Division of Pediatric Cardiology, Yale School of Medicine, 333 Cedar Street, LLCI 302, New Haven, CT 06510, USA. sean.lang@yale.edu
Abstract:
This report describes a teenager found to have both Addision's disease and long-QT syndrome type 1. This association is unique, but congenital long-QT channelopathies have been associated with other endocrinopathies. It remains to be seen whether genetic investigation should be performed for all patients with long-QTc's and endocrinopathies.
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