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- W2912608753 abstract "Abstract Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the Cadherin 23 ( CDH23 ) gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G>A/p.(Glu44Lys) was identified, expanding the mutation spectrum of CDH23 ." @default.
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- W2912608753 date "2019-01-28" @default.
- W2912608753 modified "2023-10-12" @default.
- W2912608753 title "Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I" @default.
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- W2912608753 doi "https://doi.org/10.1038/s41439-019-0037-y" @default.
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