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Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

Background: Pearson’s syndrome (PS) is a rare multi-system disorder caused by mitochondrial DNA deletion. Most PS cases in the literature are individual reports, and there is a lack of systematic analysis of clinical features and gene mutations in large samples. Objective: To report a case of PS and...

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Detalles Bibliográficos
Autores principales: Ying, Yanqin, Liang, Yan, Luo, Xiaoping, Wei, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9168460/
https://www.ncbi.nlm.nih.gov/pubmed/35677556
http://dx.doi.org/10.3389/fgene.2022.802402