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Article

Retinal Dystrophy Associated with Homozygous Variants in NRL.

Genes - 12 Dec 2024

Maggi Jordi, Hanson James V M, Kurmann Lisa, Koller Samuel, Feil Silke, Gerth-Kahlert Christina, Berger Wolfgang

Abstract excerpt

Background/Objectives: Neural retina leucine zipper (NRL) is a transcription factor involved in the differentiation of rod photoreceptors. Pathogenic variants in the gene encoding NRL have been associated with autosomal dominant retinitis pigmentosa and autosomal recessive clumped pigmentary retinal degeneration. Only a dozen unrelated families affected by recessive NRL-related retinal dystrophy have been...

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PMID: 39766861
DOI: 10.3390/genes15121594

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