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Gillespie syndrome: An atypical form and review of the literature

INTRODUCTION: Gillespie syndrome (GS) is a rare genetic disorder that combines ocular and cerebral defects. It was first described in 1965, by Frederick D. Gillespie. He reported a triad of congenital aniridia, cerebellar ataxia and mental retardation in a 22-year-old woman and her 19-year-old broth...

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Detalles Bibliográficos
Autores principales: Nabih, O., Hamdani, H., ELMaaloum, L., Allali, B., ELkettani, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761934/
https://www.ncbi.nlm.nih.gov/pubmed/35070290
http://dx.doi.org/10.1016/j.amsu.2022.103244