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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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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5852564/ https://ncbi.nlm.nih.gov/pubmed/29385733 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes9020068 |
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