Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder - Domínguez-Ruiz, María; Rodríguez-Ballesteros, Montserrat; Gandía, Marta; Gómez-Rosas, Elena; Villamar, Manuela; Scimemi, Pietro; Mancini, Patrizia; Rendtorff, Nanna D.; Moreno-Pelayo, Miguel A.; Tranebjaerg, Lisbeth; Medà, Carme; Santarelli, Rosamaria; et al. (Genes, 2022)
Keywords: Adolescent; Child; Child, Preschool; Cochlea; Exons; Female; Genes; Genetic Association Studies; Genomes; genotype-phenotype correlation; Genotypes; Hearing loss; Hearing Loss - complications; Hearing Loss - genetics; Hearing Loss - pathology; Hearing Loss, Central - complications; Hearing Loss, Central - genetics; Hearing Loss, Central - pathology; Humans; Infant; Male; Medical screening; Mutation; Nerve Tissue Proteins - genetics; Neuropathy; Parents & parenting; Pedigree; peripheral nervous system diseases; Phenotypes; Siblings; Denmark; Italy; United States--US; Spain; DFNB59; PJVK; non-syndromic hearing impairment; auditory neuropathy spectrum disorder; pejvakin; genetic epidemiology