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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Detalles Bibliográficos
Autores principales: Yim, Jisook, Kim, Kyoung Bo, Kim, Minsun, Lee, Gun Dong, Kim, Myungshin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
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

Internet

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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