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A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
de Bruijn, Suzanne E; Smits, Jeroen J; Liu, Chang; Lanting, Cornelis P; Beynon, Andy J; Blankevoort, Joëlle; Oostrik, Jaap; Koole, Wouter; de Vrieze, Erik; Cremers, Cor W R J; Cremers, Frans P M; Roosing, Susanne; Yntema, Helger G; Kunst, Henricus P M; Zhao, Bo; Pennings, Ronald J E; Kremer, Hannie.
Affiliation
  • de Bruijn SE; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
  • Smits JJ; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
  • Liu C; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
  • Lanting CP; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.
  • Beynon AJ; Department of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Blankevoort J; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.
  • Oostrik J; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.
  • Koole W; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
  • de Vrieze E; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
  • Cremers CWRJ; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.
  • Cremers FPM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
  • Roosing S; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
  • Yntema HG; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.
  • Kunst HPM; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.
  • Zhao B; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
  • Pennings RJE; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
  • Kremer H; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
J Med Genet ; 2020 Jul 06.
Article de En | MEDLINE | ID: mdl-32631815
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Observational_studies / Prognostic_studies / Risk_factors_studies Aspects: Patient_preference Langue: En Journal: J Med Genet Année: 2020 Type de document: Article Pays d'affiliation: Pays-Bas
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Observational_studies / Prognostic_studies / Risk_factors_studies Aspects: Patient_preference Langue: En Journal: J Med Genet Année: 2020 Type de document: Article Pays d'affiliation: Pays-Bas