CRB1 related retinal degeneration with novel mutation

PURPOSE: To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. To increase the genotype-phenotype understanding of CRB1-related retinal degenerative diseases and describe patients’ response to therapy. OBSERVATIONS: Patient was evaluated...

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Detalles Bibliográficos
Autores principales: Ghiam, Benjamin K., Wood, Edward H., Thanos, Aristomenis, Randhawa, Sandeep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160514/
https://www.ncbi.nlm.nih.gov/pubmed/32322752
http://dx.doi.org/10.1016/j.ajoc.2020.100699

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160514/
https://www.ncbi.nlm.nih.gov/pubmed/32322752
http://dx.doi.org/10.1016/j.ajoc.2020.100699

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