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PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic

PURPOSE: Peroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing loss, neurologic dysfunction, and other abnormalities resulting from aberrant peroxisomal function caused by mutations in PEX genes. With no treatments currently avai...

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Detalles Bibliográficos
Autores principales:	Benson, Matthew D., Papp, Kimberly M., Casey, Geoffrey A., Radziwon, Alina, St Laurent, Chris D., Doucette, Lance P., MacDonald, Ian M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9559095/ https://www.ncbi.nlm.nih.gov/pubmed/36249295 http://dx.doi.org/10.1016/j.xops.2021.100028

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