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A Case of NAA10-related Syndrome With Prolonged QTc Treated With a Subcutaneous Implantable Cardioverter Defibrillator After Ventricular Fibrillation

NAA10 is an enzyme involved in the N-terminal acetylation of proteins. NAA10-related syndrome is caused by a pathogenic variant of NAA10 on X chromosome, resulting in several phenotypes, including mental retardation, hypotonia, growth retardation, and various external malformations, with varying deg...

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Detalles Bibliográficos
Autores principales: Mizuno, Yuta, Ichikawa, Yasuhiro, Kawai, Shun, Wakamiya, Takuya, Murakami, Hiroaki, Kurosawa, Kenji, Ueda, Hideaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642139/
https://www.ncbi.nlm.nih.gov/pubmed/37969489
http://dx.doi.org/10.1016/j.cjcpc.2022.10.001