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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Smits, Jeroen J; Oostrik, Jaap; Beynon, Andy J; Kant, Sarina G; de Koning Gans, Pia A M; Rotteveel, Liselotte J C; Klein Wassink-Ruiter, Jolien S; Free, Rolien H; Maas, Saskia M; van de Kamp, Jiddeke; Merkus, Paul; Koole, Wouter; Feenstra, Ilse; Admiraal, Ronald J C; Lanting, Cornelis P; Schraders, Margit; Yntema, Helger G; Pennings, Ronald J E; Kremer, Hannie.
Affiliation
  • Smits JJ; Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Oostrik J; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Beynon AJ; Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kant SG; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Koning Gans PAM; Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rotteveel LJC; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Klein Wassink-Ruiter JS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Free RH; Department of Otorhinolaryngology, Head and Neck Surgery, LUMC, Leiden, The Netherlands.
  • Maas SM; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • van de Kamp J; Department of Otorhinolaryngology, Head and Neck Surgery, University Medical Center Groningen, Groningen, The Netherlands.
  • Merkus P; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Koole W; Department of Otolaryngology, Head and Neck Surgery, Ear and Hearing, Amsterdam Public Health Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Admiraal RJC; Hearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Lanting CP; Hearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Schraders M; Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yntema HG; Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pennings RJE; Hearing and Genes, Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kremer H; Hearing and Genes, Department of Human Genetics, Radboud University Medical Center, Internal postal code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Hum Genet ; 138(1): 61-72, 2019 Jan.
Article in En | MEDLINE | ID: mdl-30535804
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biomarkers / Genetic Predisposition to Disease / Plasma Membrane Calcium-Transporting ATPases / Hearing Loss / Mutation Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Hum Genet Year: 2019 Type: Article Affiliation country: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biomarkers / Genetic Predisposition to Disease / Plasma Membrane Calcium-Transporting ATPases / Hearing Loss / Mutation Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Hum Genet Year: 2019 Type: Article Affiliation country: Netherlands