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Last Updated: 03/06/2025

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Found 632 publications

Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.

Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.

Journal: Medicine
Published: January 31, 2025

Ultrasound's role in differentiating camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome from inflammatory arthritis in children. A narrative review.

Ultrasound's role in differentiating camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome from inflammatory arthritis in children. A narrative review.

Journal: Medical ultrasonography
Published: December 20, 2024

Camptodactyly.

Camptodactyly.

Journal: The journal of hand surgery Asian-Pacific volume
Published: November 15, 2024

ECEL1 mutation in distal arthrogryposis type 5D: A case report.

ECEL1 mutation in distal arthrogryposis type 5D: A case report.

Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: November 04, 2024

Spontaneous Resolution of Congenital Insufficiency of the Extensor Tendon Central Slip.

Spontaneous Resolution of Congenital Insufficiency of the Extensor Tendon Central Slip.

Journal: Journal of pediatric orthopedics
Published: July 11, 2024

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Journal: BMJ case reports
Published: July 02, 2024

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Journal: Clinical dysmorphology
Published: June 10, 2024

Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene.

Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene.

Journal: Frontiers in pediatrics
Published: June 02, 2024

Unveiling complexity: A detailed case report on type 1 diabetes and its rare camptodactyly complication.

Unveiling complexity: A detailed case report on type 1 diabetes and its rare camptodactyly complication.

Journal: Morphologie : bulletin de l'Association des anatomistes
Published: May 13, 2024

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Journal: Genes
Published: May 10, 2024

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.

Journal: Journal of pediatric orthopedics
Published: April 26, 2024

FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.

FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.

Journal: Connective tissue research
Published: April 11, 2024
Showing 1-12 of 632

Last Updated: 03/06/2025