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

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第一作者： María,Domínguez-Ruiz

第一单位： Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.

作者： María,Domínguez-Ruiz ^[1] ; Montserrat,Rodríguez-Ballesteros ^[2] ; Marta,Gandía ^[1] ; Elena,Gómez-Rosas ^[2] ; Manuela,Villamar ^[1] ; Pietro,Scimemi ^[2] ; Patrizia,Mancini ^[1] ; Nanna D,Rendtorff ^[2] ; Miguel A,Moreno-Pelayo ^[1] ; Lisbeth,Tranebjaerg ^[2] ; Carme,Medà ^[3] ; Rosamaria,Santarelli ^[4] ; Ignacio,Del Castillo ^[5]

作者单位： Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain. ^[1] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain. ^[2] Department of Neurosciences, University of Padua, 35121 Padua, Italy. ^[3] Audiology Service, Santi Giovanni e Paolo Hospital, 30122 Venice, Italy. ^[4] Department of Sense Organs, University La Sapienza, 00162 Rome, Italy. ^[5] Department of Clinical Genetics, University Hospital, Copenhagen/The Kennedy Centre, DK-2600 Glostrup, Denmark. ^[6] Department of Clinical Medicine, University of Copenhagen, DK-2100 Copenhagen, Denmark. ^[7] Unidad de Prevención de Enfermedades del Oído, Conselleria de Salut, Illes Balears, 07120 Palma de Mallorca, Spain. ^[8]

关键词 DFNB59 PJVK auditory neuropathy spectrum disorder genetic epidemiology non-syndromic hearing impairment pejvakin