A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina

PURPOSE: Various autosomal recessive retinal dystrophies are reported to be associated with mutations in nuclear receptor subfamily 2, group E, member 3 (NR2E3, also called PNR) gene. The present study proposed to understand the clinical and genetic characteristics of the family of a patient with an...

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Detalles Bibliográficos
Autores principales: Manayath, George J., Namburi, Prasanthi, Periasamy, Sundaresan, Kale, Jeevan A., Narendran, Venkatapathy, Ganesh, Anuradha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4039415/
https://www.ncbi.nlm.nih.gov/pubmed/24891813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4039415/
https://www.ncbi.nlm.nih.gov/pubmed/24891813

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