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Phosphatidylinositol 4-kinase ß mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su, Xiulan; Feng, Yufei; Rahman, Sofia A; Wu, Shuilong; Li, Guoan; Rüschendorf, Franz; Zhao, Lei; Cui, Hongwei; Liang, Junqing; Fang, Liang; Hu, Hao; Froehler, Sebastian; Yu, Yong; Patone, Giannino; Hummel, Oliver; Chen, Qinghua; Raile, Klemens; Luft, Friedrich C; Bähring, Sylvia; Hussain, Khalid; Chen, Wei; Zhang, Jingjing; Gong, Maolian.
Afiliação
  • Su X; Clinical Medicine Research Center, Affiliated Hospital of Inner Mongolia Medical University, Huhhot, 010050, China.
  • Feng Y; Affiliated Hospital of Guangdong Medical University & Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University, Zhanjiang, 524001, China; Marine Medical Research Institute of Guangdong Zhanjiang, Zhanjiang, 524023, China.
  • Rahman SA; Genomic Medicine Programme, UCL Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London, WC1N 1EH, UK.
  • Wu S; Affiliated Hospital of Guangdong Medical University & Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University, Zhanjiang, 524001, China; Marine Medical Research Institute of Guangdong Zhanjiang, Zhanjiang, 524023, China.
  • Li G; Affiliated Hospital of Guangdong Medical University & Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University, Zhanjiang, 524001, China; Marine Medical Research Institute of Guangdong Zhanjiang, Zhanjiang, 524023, China.
  • Rüschendorf F; Max-Delbrueck-Center for Molecular Medicine (MDC), Robert-Roessle-Str.10, Berlin, 13125, Germany.
  • Zhao L; Department of Radiology, Affiliated Hospital of Inner Mongolia Medical University, Huhhot, 010050, China.
  • Cui H; Clinical Medicine Research Center, Affiliated Hospital of Inner Mongolia Medical University, Huhhot, 010050, China.
  • Liang J; Affiliated People Hospital of Inner Mongolia Medical University, Huhhot, 010050, China.
  • Fang L; Max-Delbrueck-Center for Molecular Medicine (MDC), Robert-Roessle-Str.10, Berlin, 13125, Germany; Department of Biology, Southern University of Science and Technology, Shenzhen, 518055, China.
  • Hu H; Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
  • Froehler S; Max-Delbrueck-Center for Molecular Medicine (MDC), Robert-Roessle-Str.10, Berlin, 13125, Germany.
  • Yu Y; Max-Delbrueck-Center for Molecular Medicine (MDC), Robert-Roessle-Str.10, Berlin, 13125, Germany.
  • Patone G; Max-Delbrueck-Center for Molecular Medicine (MDC), Robert-Roessle-Str.10, Berlin, 13125, Germany.
  • Hummel O; Max-Delbrueck-Center for Molecular Medicine (MDC), Robert-Roessle-Str.10, Berlin, 13125, Germany.
  • Chen Q; Department of Radiology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
  • Raile K; Experimental and Clinical Research Center (ECRC), A Joint Cooperation Between the Charité Medical Faculty and the Max-Delbrueck-Center for Molecular Medicine in the Helmholtz Association (MDC), Lindenberger Weg.80, Berlin, 13125, Germany.
  • Luft FC; Experimental and Clinical Research Center (ECRC), A Joint Cooperation Between the Charité Medical Faculty and the Max-Delbrueck-Center for Molecular Medicine in the Helmholtz Association (MDC), Lindenberger Weg.80, Berlin, 13125, Germany.
  • Bähring S; Experimental and Clinical Research Center (ECRC), A Joint Cooperation Between the Charité Medical Faculty and the Max-Delbrueck-Center for Molecular Medicine in the Helmholtz Association (MDC), Lindenberger Weg.80, Berlin, 13125, Germany.
  • Hussain K; Department of Paediatric Medicine Division of Endocrinology, Sidra Medical & Research Center, OPC, Doha, C6-337, Qatar.
  • Chen W; Department of Biology, Southern University of Science and Technology, Shenzhen, 518055, China; Medi-X Institute, SUSTec Academy for Advanced Interdisciplinary Studies, Southern University of Science and Technology, Shenzhen, 518055, China.
  • Zhang J; Affiliated Hospital of Guangdong Medical University & Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University, Zhanjiang, 524001, China; Marine Medical Research Institute of Guangdong Zhanjiang, Zhanjiang, 524023, China. Electronic address: jingjing.zhang@li
  • Gong M; Experimental and Clinical Research Center (ECRC), A Joint Cooperation Between the Charité Medical Faculty and the Max-Delbrueck-Center for Molecular Medicine in the Helmholtz Association (MDC), Lindenberger Weg.80, Berlin, 13125, Germany. Electronic address: maolian@mdc-berlin.de.
J Genet Genomics ; 47(10): 618-626, 2020 10 20.
Article em En | MEDLINE | ID: mdl-33358777
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfotransferases (Aceptor do Grupo Álcool) / Predisposição Genética para Doença / Perda Auditiva Neurossensorial / Doenças do Labirinto Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfotransferases (Aceptor do Grupo Álcool) / Predisposição Genética para Doença / Perda Auditiva Neurossensorial / Doenças do Labirinto Idioma: En Ano de publicação: 2020 Tipo de documento: Article