Chondrodystrophy Latest Advances

Find the Latest Research About Chondrodystrophy

Last Updated: 02/24/2026

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Found 6352 publications

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

Journal: Journal of genetics
Published: January 22, 2026

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

Journal: Journal of oral science
Published: January 18, 2026

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Journal: Prague medical report
Published: January 02, 2026

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Journal: BMJ case reports
Published: December 18, 2025

Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.

Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.

Journal: International journal of molecular sciences
Published: November 06, 2025

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

Radial head subluxation in a chondrodystrophic cat: aetiology, surgical treatment and outcome.

Radial head subluxation in a chondrodystrophic cat: aetiology, surgical treatment and outcome.

Journal: JFMS open reports
Published: September 23, 2025

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

Journal: International journal of molecular sciences
Published: September 12, 2025

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

Journal: Pediatric transplantation
Published: August 29, 2025

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

Journal: Molecular biology reports
Published: August 28, 2025

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Journal: Molecular genetics & genomic medicine
Published: August 27, 2025

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.

Journal: Medicine
Published: August 24, 2025
Showing 1-12 of 6,352

Last Updated: 02/24/2026