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

30 Jan 2018

Abstract excerpt

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 two different families with arNRL mutations were enrolled in this study. The mutation in the DNA of one patient, from...

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PMID: 29385733
DOI: 10.3390/genes9020068

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Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone SyndromePMID 29385733Read ↗

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