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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi
2020
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| 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 |