Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. OCRL1 encodes an inositol polyphosphate 5-phosphatase which preferentially dephosphorylates phosphatidylinositi...

Descripción completa

Detalles Bibliográficos
Autores principales: Song, Emilie, Luo, Na, Alvarado, Jorge A., Lim, Maria, Walnuss, Cathleen, Neely, Daniel, Spandau, Dan, Ghaffarieh, Alireza, Sun, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431454/
https://www.ncbi.nlm.nih.gov/pubmed/28473699
http://dx.doi.org/10.1038/s41598-017-01447-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431454/
https://www.ncbi.nlm.nih.gov/pubmed/28473699
http://dx.doi.org/10.1038/s41598-017-01447-3

Ejemplares similares