A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree
A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree
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England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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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.
In this study, we enrolled a Chinese autosomal recessive retinitis pigmentosa (arRP) pedigree and identified the causative gene in the proband by targeted whole exome se...
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Full title
A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree
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TN_cdi_doaj_primary_oai_doaj_org_article_8cd43fa52e2c400f889caa5110ec63db
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8cd43fa52e2c400f889caa5110ec63db
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ISSN
1471-2415
E-ISSN
1471-2415
DOI
10.1186/s12886-024-03640-1
