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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
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| 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 |