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Last Updated: 01/07/2026
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Found 103 publications
Pathologies of the cervical spine in skeletal syndromes and dysplasias.
Journal: Orthopaedics & traumatology, surgery & research : OTSR
Published: September 21, 2025
The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.
Journal: International journal of molecular sciences
Published: September 12, 2025
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.
Journal: Clinical genetics
Published: September 01, 2025
Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading.
Journal: American journal of physiology. Cell physiology
Published: February 28, 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
Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.
Journal: JBMR plus
Published: March 30, 2023
Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.
Journal: Malaysian orthopaedic journal
Published: August 09, 2021
Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Journal: American journal of medical genetics. Part A
Published: December 11, 2020
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
Last Updated: 01/07/2026