Kozlowski Spondylometaphyseal Dysplasia Latest Advances

Find the Latest Research About Kozlowski Spondylometaphyseal Dysplasia

Last Updated: 09/26/2026

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Found 33 publications

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Journal: Human molecular genetics
Published: January 20, 2026

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.

Journal: Molecular syndromology
Published: December 12, 2012
Showing 1-12 of 33

Last Updated: 09/26/2026