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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...
Autores principales: | Yim, Jisook, Kim, Kyoung Bo, Kim, Minsun, Lee, Gun Dong, Kim, Myungshin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842678/ https://www.ncbi.nlm.nih.gov/pubmed/35174115 http://dx.doi.org/10.3389/fped.2021.790075 |
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