Multiple Epiphyseal Dysplasia Latest Advances

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

Journal: European journal of human genetics : EJHG

Published: November 15, 2025

Clinical outcomes of total hip arthroplasty in patients with multiple epiphyseal dysplasia: a single centre study of eighty eight hips at a mean of sixteen year follow-up.

Journal: International orthopaedics

Published: August 12, 2025

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Journal: European journal of pediatrics

Published: March 23, 2025

Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: March 02, 2025

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.

Journal: Molecular genetics & genomic medicine

Published: February 27, 2025

An Interesting Case of Multiple Epiphyseal Dysplasia Masquerading as Myopathy in a Southeast Asian Girl.

Journal: Cureus

Published: February 02, 2025

Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.

Journal: Genes

Published: October 29, 2024

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway.

Journal: Osteoarthritis and cartilage

Published: August 13, 2024

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.

Journal: Osteoarthritis and cartilage

Published: August 13, 2024

Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 01, 2024

Staged Bilateral Total Hip Arthroplasty in an Adolescent Patient With Multiple Epiphyseal Dysplasia and Bilateral Avascular Necrosis.

Journal: Arthroplasty today

Published: May 20, 2024

Multiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies.

Journal: Cureus

Published: April 24, 2024

Multiple Epiphyseal Dysplasia Latest Advances

Find the Latest Research About Multiple Epiphyseal Dysplasia

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

Clinical outcomes of total hip arthroplasty in patients with multiple epiphyseal dysplasia: a single centre study of eighty eight hips at a mean of sixteen year follow-up.

Clinical outcomes of total hip arthroplasty in patients with multiple epiphyseal dysplasia: a single centre study of eighty eight hips at a mean of sixteen year follow-up.

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.

Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.

An Interesting Case of Multiple Epiphyseal Dysplasia Masquerading as Myopathy in a Southeast Asian Girl.

An Interesting Case of Multiple Epiphyseal Dysplasia Masquerading as Myopathy in a Southeast Asian Girl.

Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.

Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway.

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway.

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway.

Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia

Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia

Staged Bilateral Total Hip Arthroplasty in an Adolescent Patient With Multiple Epiphyseal Dysplasia and Bilateral Avascular Necrosis.

Staged Bilateral Total Hip Arthroplasty in an Adolescent Patient With Multiple Epiphyseal Dysplasia and Bilateral Avascular Necrosis.

Multiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies.

Multiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies.