Article

A multicenter, prospective, cross-sectional, genotype-phenotype and longitudinal natural history study of Andersen-Tawil syndrome

2022-05-30

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> A multi-center, prospective, cross-sectional natural history study to define the clinical phenotype of Andersen-Tawil syndrome, validate its current diagnostic criteria, explore genotype-phenotype correlations, and establish clinically relevant endpoints for use in therapeutic trials. <h4>Methods</h4> Participants were followed at yearly intervals for two years. Outcome measure...

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Literature Corpus work: 248659fd-458f-57f7-8968-6afe040ec94c
DOI: 10.1101/2022.05.26.22275429

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