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Last Updated: 10/31/2025

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Found 6075 publications

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

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

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.

Journal: International journal of molecular sciences
Published: August 05, 2025

A Bumpy Ride Through a Turbulent Airway: But Not Always-A Case Report of Tracheobronchopathia Osteochondroplastica.

A Bumpy Ride Through a Turbulent Airway: But Not Always-A Case Report of Tracheobronchopathia Osteochondroplastica.

Journal: Journal of investigative medicine high impact case reports
Published: July 17, 2025

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Journal: Genes
Published: July 02, 2025

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Journal: International journal of molecular sciences
Published: June 03, 2025

A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.

A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 02, 2025

Clinical analysis in 15 pediatric patients with osteochondrodysplasias related to COMP gene variants

Clinical analysis in 15 pediatric patients with osteochondrodysplasias related to COMP gene variants

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: May 20, 2025

Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant.

Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant.

Journal: Calcified tissue international
Published: May 02, 2025

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review.

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review.

Journal: Medicine
Published: April 21, 2025

Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey.

Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey.

Journal: American journal of medical genetics. Part A
Published: April 17, 2025

Atlantoaxial Instability in Collagen Type 2 Skeletal Dysplasias: Surgical Indications and Recommendations.

Atlantoaxial Instability in Collagen Type 2 Skeletal Dysplasias: Surgical Indications and Recommendations.

Journal: Journal of pediatric orthopedics
Published: March 31, 2025
Showing 1-12 of 6,075

Last Updated: 10/31/2025