Article

Novel frameshift Variant c.3056delA of the DHX38 Gene in a Chinese Family With Retinitis Pigmentosa

2023-06-12

Abstract excerpt

<h4>Background: </h4> Retinitis pigmentosa (RP) is the most common inherited retinal degeneration. Our purpose was to describe disease-causing variants in a Chinese patient with RP. We described the clinical features and identify a novel (p.Lys1019fs) variant in DHX38 . Case presentation A 47-year-old Chinese man complained of persistent visual impairment. To clarify the diagnosis, the clinical symptoms were obser...

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Literature Corpus work: 5bdca4c2-3bd2-50a0-9d83-f484c33ab0bc
DOI: 10.21203/rs.3.rs-3009418/v1

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Novel frameshift Variant c.3056delA of the DHX38 Gene in a Chinese Family With Retinitis PigmentosaDOI 10.21203/rs.3.rs-3009418/v1Read

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