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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.
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.
Journal: Medical ultrasonography
Published: December 20, 2024
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.
Journal: Journal of pediatric orthopedics
Published: July 11, 2024
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Journal: BMJ case reports
Published: July 02, 2024
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.
Journal: Frontiers in pediatrics
Published: June 02, 2024
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.
Journal: Genes
Published: May 10, 2024
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.
Journal: Connective tissue research
Published: April 11, 2024
Last Updated: 03/06/2025