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The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis.
Shu, Yilai; Wang, Lijun; Cheng, Xiaoting; Tangshewinsirikul, Chayada; Shi, Weili; Yuan, Yasheng; Yan, Zhiqiang; Li, Huawei; Shen, Jun; Chen, Bing; Zou, Weiguo.
Affiliation
  • Shu Y; ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China; NHC Key Laboratory of Hearing Medicine, Fuda
  • Wang L; State Key Laboratory of Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
  • Cheng X; ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China; NHC Key Laboratory of Hearing Medicine, Fuda
  • Tangshewinsirikul C; Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA; Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Shi W; Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, 450003, China.
  • Yuan Y; ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China; NHC Key Laboratory of Hearing Medicine, Fuda
  • Yan Z; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Human Phenome Institute, Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center of Genetics and Development, Institute of Brain Science, Department of Physiology and B
  • Li H; ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China; NHC Key Laboratory of Hearing Medicine, Fuda
  • Shen J; Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA; Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA. Electronic address: jshen5@bwh.harvard.edu.
  • Chen B; ENT Institute and Otorhinolaryngology Department of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai, 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China; NHC Key Laboratory of Hearing Medicine, Fuda
  • Zou W; State Key Laboratory of Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China. Electronic address: zouwg94@sibcb.ac.cn.
J Genet Genomics ; 46(9): 445-449, 2019 09 20.
Article in En | MEDLINE | ID: mdl-31628072
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Stapes / Carrier Proteins / Hearing Loss, Conductive / Ankylosis Type of study: Etiology_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: J Genet Genomics Year: 2019 Document type: Article Country of publication: China
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Stapes / Carrier Proteins / Hearing Loss, Conductive / Ankylosis Type of study: Etiology_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: J Genet Genomics Year: 2019 Document type: Article Country of publication: China