Congenital Contractural Arachnodactyly Latest Advances
Find the Latest Research About Congenital Contractural Arachnodactyly
Last Updated: 06/30/2026
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Found 200 publications
Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.
Journal: Frontiers in medicine
Published: March 12, 2026
Syndrome of the Month: Van den Ende-Gupta Syndrome: Gestalt Diagnosis, Outcomes, and Recommendations.
Journal: American journal of medical genetics. Part A
Published: January 21, 2026
Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly.
Journal: Genetics research
Published: November 16, 2025
Perioperative Care of a Pediatric Patient With Beals Syndrome.
Journal: Journal of medical cases
Published: June 26, 2025
Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.
Journal: Circulation. Genomic and precision medicine
Published: May 23, 2025
Possible break-down of redox homeostasis in Beals-Hecht syndrome.
Journal: Scientific reports
Published: March 25, 2025
Labor Analgesia in a Patient With Beals Syndrome: A Case Report of Management Challenges.
Journal: Cureus
Published: February 19, 2025
Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families.
Journal: Journal of medical genetics
Published: November 21, 2024
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations.
Journal: Molecular genetics and metabolism reports
Published: November 06, 2024
Last Updated: 06/30/2026