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A Case of Gillespie Syndrome With Atypical Presentation
Gillespie syndrome, a genetically inherited condition, is described as a disease that primarily affects the ocular and associated nervous systems. It is characterized by a clinical triad of bilateral aniridia, intellectual disability, and cerebellar ataxia, and is inherited in an autosomal dominant...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9741524/ https://www.ncbi.nlm.nih.gov/pubmed/36514658 http://dx.doi.org/10.7759/cureus.31341 |