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Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience

Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, ventricular arrhythmia, and dysmorphic features. However, the classical features are not always seen in the syndrome; therefore, the diagnosis can be challenging. We describe our experience with ATS in Riya...

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Detalles Bibliográficos
Autores principales: Alrashed, Norah A., Al-Manea, Waleed M., Tulbah, Sahar A., Al-Hassnan, Zuhair N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926230/
https://www.ncbi.nlm.nih.gov/pubmed/31890843
http://dx.doi.org/10.1016/j.ijpam.2019.06.005