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Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.

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Title: Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.
Authors: Dong L; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China., Ho KC; Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong., Tan Z; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong., He Y; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China., Zhou Y; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China., Yin S; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China., Feng L; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China., Wong JSH; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong., Tsun To MK; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
Source: Clinical genetics [Clin Genet] 2026 Apr; Vol. 109 (4), pp. 796-802. Date of Electronic Publication: 2025 Nov 20.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
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  Data: Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.
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  Data: <searchLink fieldCode="AU" term="%22Dong+L%22">Dong L</searchLink>; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Ho+KC%22">Ho KC</searchLink>; Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Tan+Z%22">Tan Z</searchLink>; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22He+Y%22">He Y</searchLink>; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Zhou+Y%22">Zhou Y</searchLink>; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Yin+S%22">Yin S</searchLink>; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Feng+L%22">Feng L</searchLink>; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Wong+JSH%22">Wong JSH</searchLink>; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Tsun+To+MK%22">Tsun To MK</searchLink>; Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Translational Medicine Research Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.; Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2026 Apr; Vol. 109 (4), pp. 796-802. <i>Date of Electronic Publication: </i>2025 Nov 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE; In Process
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      – Type: doi
        Value: 10.1111/cge.70103
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      – Code: eng
        Text: English
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        StartPage: 796
    Titles:
      – TitleFull: Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.
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            NameFull: Dong L
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            NameFull: Ho KC
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            – D: 01
              M: 04
              Text: 2026 Apr
              Type: published
              Y: 2026
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              Value: 109
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              Value: 4
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            – TitleFull: Clinical genetics
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