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Last Updated: 01/07/2026
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Found 221 publications
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.
Journal: Clinical genetics
Published: September 01, 2025
Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.
Journal: ACS chemical biology
Published: May 06, 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
The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.
Journal: Human molecular genetics
Published: March 22, 2025
Spine surgery in a rare case of Mégarbané-Dagher-Melki type spondylometaphyseal dysplasia. A Case Report.
Journal: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
Published: February 25, 2025
Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Journal: European journal of pediatrics
Published: October 07, 2024
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
Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
Journal: Journal of pediatric genetics
Published: July 12, 2024
Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia.
Journal: Cellular and molecular life sciences : CMLS
Published: June 10, 2024
Last Updated: 01/07/2026