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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations. However, when extracardiac symptoms are atypical or absent, the patient can be diagnosed with Catecholamin...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8655864/ https://www.ncbi.nlm.nih.gov/pubmed/34899860 http://dx.doi.org/10.3389/fgene.2021.773177 |