Spondyloepimetaphyseal Dysplasia Strudwick Type Latest Advances

Find the Latest Research About Spondyloepimetaphyseal Dysplasia Strudwick Type

Last Updated: 04/28/2026

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Found 221 publications

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Journal: Calcified tissue international
Published: October 06, 2025

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

Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.

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.

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.

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.

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

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

Journal: Lupus
Published: November 19, 2024

Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.

Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.

Journal: European journal of pediatrics
Published: October 07, 2024

The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body.

The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body.

Journal: Open biology
Published: September 10, 2024

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

Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.

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.

Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia.

Journal: Cellular and molecular life sciences : CMLS
Published: June 10, 2024
Showing 1-12 of 221

Last Updated: 04/28/2026