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A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree

Abstract Background Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. However, it is still not well understand about the relationship between PCDH15 variants and RP. Methods In this study, we enrolled a Chinese autosomal recessive retinitis pigmentosa (arRP) pedigree...

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Bibliografische gegevens
Hoofdauteurs: Hong Yang, Ya-juan Zhang, Li Zhu, Wei-yi Zheng, Mei-yu Shi, Wen-rui Zhao, Hong-chao Zhao
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMC 2024-08-01
Reeks:BMC Ophthalmology
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Online toegang:https://doi.org/10.1186/s12886-024-03640-1
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