{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:45Z","timestamp":1775804805326,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82472392"],"award-info":[{"award-number":["82472392"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017610","name":"Shenzhen Science and Technology Innovation Program","doi-asserted-by":"publisher","award":["JCYJ20230807113500001"],"award-info":[{"award-number":["JCYJ20230807113500001"]}],"id":[{"id":"10.13039\/501100017610","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzen Municipality","doi-asserted-by":"publisher","award":["SZSM202311022"],"award-info":[{"award-number":["SZSM202311022"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Dominant mutations in the calcium permeable ion channel\n                    <jats:italic>TRPV4<\/jats:italic>\n                    (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease. However, the full spectrum of\n                    <jats:italic>TRPV4<\/jats:italic>\n                    \u2010related phenotypes remains incompletely defined. This study systematically reviewed the clinical and genetic features of 10 Chinese patients harboring various\n                    <jats:italic>TRPV4<\/jats:italic>\n                    variants. In the cohort, six patients were diagnosed with spondylometaphyseal dysplasia Kozlowski type (SMDK) and four patients with metatropic dysplasia (MD). The most common features involved spinal deformity (platyspondyly, kyphosis or scoliosis), and lower\u2010limb malalignments (genu varum, genu valgum, or leg\u2010length discrepancy). Two patients with MD had neurological deficits. The R594H and P799R substitutions were the most recurrent variants in our study. A novel variant (c.1628T&gt;G, p.L543R) in the S2\u2010S3 loop was identified. The study seeks to improve diagnostic precision by combining genetic and radiographic assessment, and highlights the importance of early spinal surveillance and multidisciplinary care to prevent neurological complications underlying\n                    <jats:italic>TRPV4<\/jats:italic>\n                    \u2010mediated disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.70103","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T14:41:01Z","timestamp":1763649661000},"page":"796-802","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With\n                    <scp>TRPV4<\/scp>\n                    \u2010Related Dysplasia"],"prefix":"10.1111","volume":"109","author":[{"given":"Lina","family":"Dong","sequence":"first","affiliation":[{"name":"Department of Orthopaedics and Traumatology The University of Hong 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Shenzhen China"},{"name":"Translational Medicine Research Centre The University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1361-4733","authenticated-orcid":false,"given":"Janus Siu Him","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology The University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"},{"name":"Clinical Research Centre for Rare Diseases The University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"},{"name":"Translational Medicine Research Centre The University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"},{"name":"Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine The University of Hong Kong  Hong Kong Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael Kai","family":"Tsun To","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology The University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"},{"name":"Clinical Research Centre for Rare Diseases The University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"},{"name":"Translational Medicine Research Centre The University of Hong Kong\u2010Shenzhen Hospital  Shenzhen China"},{"name":"Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine The University of Hong Kong  Hong Kong Hong 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