Browsing Genetics (Scholarly Publications) by Subject "autosomal recessively inherited disease"
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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
(2022)Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both ...