Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa

Retinitis pigmentosa (RP) belongs to a family of retinal disorders that is characterized by the progressive degeneration of rod and cone photoreceptors. The aim of the present study was to screen for possible disease-causing genetic variants in a non-consanguineous Chinese family with non-syndromic...

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Detalles Bibliográficos
Autores principales: Zou, Tongdan, Wang, Ting, Zhen, Fangyuan, Dong, Shuqian, Gong, Bo, Zhang, Houbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972287/
https://www.ncbi.nlm.nih.gov/pubmed/35386112
http://dx.doi.org/10.3892/br.2022.1523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972287/
https://www.ncbi.nlm.nih.gov/pubmed/35386112
http://dx.doi.org/10.3892/br.2022.1523

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