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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...
Autores principales: | Ying, Yanqin, Liang, Yan, Luo, Xiaoping, Wei, Ming |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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 |
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