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

Autor: María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D. Rendtorff, Miguel A. Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio del Castillo

Publikováno v: Domínguez-Ruiz, M, Rodríguez-Ballesteros, M, Gandía, M, Gómez-Rosas, E, Villamar, M, Scimemi, P, Mancini, P, Rendtorff, N D, Moreno-Pelayo, M A, Tranebjaerg, L, Medà, C, Santarelli, R & Del Castillo, I 2022, ' Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder ', Genes, vol. 13, no. 1, 149 . https://doi.org/10.3390/genes13010149
Genes, Vol 13, Iss 149, p 149 (2022)
Genes; Volume 13; Issue 1; Pages: 149

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 cochl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47560eabd096824ebcabfc1a1d8d84bc
https://curis.ku.dk/portal/da/publications/novel-pathogenic-variants-in-pjvk-the-gene-encoding-pejvakin-in-subjects-with-autosomal-recessive-nonsyndromic-hearing-impairment-and-auditory-neuropathy-spectrum-disorder(4927f0c2-ea26-491c-9e25-f2e425ee6235).html

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.