Andersen-Tawil Syndrome With Novel Mutation in KCNJ2: Case Report
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic variants of the inwardly rectifying potassium chann...
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Frontiers Media S.A.,
2022-01-01T00:00:00Z.
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A1234.567 |
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