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Ophthalmoplegia, pigmentary retinopathy, and abnormal cardiac conduction: A rare case of Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS) is one of the three classic and overlapping phenotypes that result from simplex mitochondrial DNA (mtDNA) deletion syndromes. The rarity of the syndrome has led to a paucity of reported cases in the literature. We present the case of a young female who presented with droo...

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Detalles Bibliográficos
Autores principales: Nadeem, Arsalan, Umar, Sumayya, Rehmani, Sohaib, Javaid, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9945776/
https://www.ncbi.nlm.nih.gov/pubmed/36845279
http://dx.doi.org/10.1016/j.ensci.2023.100448