Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

PURPOSE: To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina leucine zipper (NRL). METHODS: Exome sequencing was performed in one affected family member...

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Detalles Bibliográficos
Autores principales: El-Asrag, Mohammed E., Corton, Marta, McKibbin, Martin, Avila-Fernandez, Almudena, Mohamed, Moin D., Blanco-Kelly, Fiona, Toomes, Carmel, Inglehearn, Chris F., Ayuso, Carmen, Ali, Manir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122474/
https://www.ncbi.nlm.nih.gov/pubmed/35693422

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122474/
https://www.ncbi.nlm.nih.gov/pubmed/35693422

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