Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

Enhanced S-cone syndrome (ESCS) is mainly associated with mutations in the NR2E3 gene. However, rare mutations in the NRL gene have been reported in patients with ESCS. We report on an ESCS phenotype in additional patients with autosomal recessive NRL (arNRL) mutations. Three Moroccan patients of tw...

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Detalles Bibliográficos
Autores principales: Littink, Karin W., Stappers, Patricia T. Y., Riemslag, Frans C. C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P. M., Collin, Rob W. J., van den Born, L. Ingeborgh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852564/
https://www.ncbi.nlm.nih.gov/pubmed/29385733
http://dx.doi.org/10.3390/genes9020068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852564/
https://www.ncbi.nlm.nih.gov/pubmed/29385733
http://dx.doi.org/10.3390/genes9020068

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