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...

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Detalles Bibliográficos
Autores principales: Le Tanno, Pauline, Folacci, Mathilde, Revilloud, Jean, Faivre, Laurence, Laurent, Gabriel, Pinson, Lucile, Amedro, Pascal, Millat, Gilles, Janin, Alexandre, Vivaudou, Michel, Roux-Buisson, Nathalie, Fauré, Julien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
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

Internet

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

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