CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum

BACKGROUND: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarit...

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Detalles Bibliográficos
Autores principales: Saberi, Mohammad, Golchehre, Zahra, Karamzade, Arezou, Entezam, Mona, Eshaghkhani, Yeganeh, Alavinejad, Elaheh, Khojasteh Jafari, Hassan, Keramatipour, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute of Iran 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661128/
https://www.ncbi.nlm.nih.gov/pubmed/31103025
http://dx.doi.org/10.29252/.23.5.362

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661128/
https://www.ncbi.nlm.nih.gov/pubmed/31103025
http://dx.doi.org/10.29252/.23.5.362

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