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
Description
ISSN:1399-0004
DOI:10.1111/cge.70103