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Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome

OBJECTIVE: To describe unusual course and unusual phenotypic features in an adult patient with Kearns–Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and opht...

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Detalles Bibliográficos
Autores principales: Finsterer, Josef, Winklehner, Michael, Stöllberger, Claudia, Hummel, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064856/
https://www.ncbi.nlm.nih.gov/pubmed/32181031
http://dx.doi.org/10.1155/2020/7368527