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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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שמור ב:
Principais autores: Hong Yang, Ya-juan Zhang, Li Zhu, Wei-yi Zheng, Mei-yu Shi, Wen-rui Zhao, Hong-chao Zhao
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2024-08-01
סדרה:BMC Ophthalmology
נושאים:
Retinitis pigmentosa
Exome sequencing
PCDH15 gene
Compound heterozygous variants
גישה מקוונת:https://doi.org/10.1186/s12886-024-03640-1
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