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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Spandidos Publications
2022
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Subjects: | |
Online Access: | View Fulltext in Publisher |