Articles with "variants pjvk" as a keyword



Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

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Published in 2022 at "Genes"

DOI: 10.3390/genes13010149

Abstract: Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochlear… read more here.

Keywords: pjvk gene; recessive non; pathogenic variants; autosomal recessive ... See more keywords