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Last Updated: 01/07/2026
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Found 32 publications
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.
Journal: Clinical genetics
Published: September 01, 2025
A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism.
Journal: Orphanet journal of rare diseases
Published: April 14, 2025
Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Journal: Pediatric radiology
Published: August 01, 2024
Kazimierz S. Kozlowski, 1928.
Journal: Seminars in musculoskeletal radiology
Published: April 03, 2023
Human skeletal dysplasia causing L596P-mutant alters the conserved amino acid pattern at the lipid-water-Interface of TRPV4.
Journal: Biochimica et biophysica acta. Biomembranes
Published: June 10, 2022
Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type.
Journal: Journal of pediatric genetics
Published: May 20, 2021
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 20, 2020
Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.
Journal: Orthopaedic surgery
Published: June 17, 2019
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
Journal: Molecular genetics & genomic medicine
Published: July 15, 2018
SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.
Journal: European journal of medical genetics
Published: October 31, 2016
COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.
Journal: Molecular syndromology
Published: December 12, 2012
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
Journal: Experimental & molecular medicine
Published: November 13, 2012
Last Updated: 01/07/2026