Kearns–Sayre syndrome with a novel large-scale deletion: a case report

BACKGROUND: Kearns–Sayre syndrome (KSS) is a rare, multisystem mitochondrial encephalomyopathy. We report a case of KSS with a novel 7.6-kb deletion as assessed through a long-range polymerase chain reaction (PCR) study in the blood. In addition, optical coherence tomography angiography (OCTA) confi...

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Detalles Bibliográficos
Autores principales: Zhu, Qin, Chen, Chunwen, Yao, Jingyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785533/
https://www.ncbi.nlm.nih.gov/pubmed/35073857
http://dx.doi.org/10.1186/s12886-021-02224-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785533/
https://www.ncbi.nlm.nih.gov/pubmed/35073857
http://dx.doi.org/10.1186/s12886-021-02224-7

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