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...

Descripción completa

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

Internet

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

Ejemplares similares