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A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma

Peroxisomal biogenesis disorders (PBDs) are autosomal recessive diseases caused by mutations in one of the 14 PEX genes described in the scientific literature. All of these syndromes may be associated with different mutations in the PEX genes, the most frequent being PEX1 for patients with Zellweger...

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Detalles Bibliográficos
Autores principales: Galvez-Ruiz, Alberto, Galindo-Ferreiro, Alicia, Alkatan, Hind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137698/
https://www.ncbi.nlm.nih.gov/pubmed/30224891
http://dx.doi.org/10.1016/j.sjopt.2017.09.004