Disease: Spondylometaphyseal dysplasia- Kozlowski type
- A new form or a variant of SMD type A4
- Autosomal Dominant <em>TRPV4</em> Disorders
- Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report
- COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type
- Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
- Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
- Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
- Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation
- Kazimierz S. Kozlowski, 1928
- L596-W733 bond between the start of the S4-S5 linker and the TRP box stabilizes the closed state of TRPV4 channel
- Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report
- Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia
- Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
- Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin
- Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
- Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia
- SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
- Spondylometaphyseal dysplasia (Kozlowski type): case report
- Spondylometaphyseal dysplasia, Kozlowski type
- TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
- TRPV4-associated skeletal dysplasias
- TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients