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Last Updated: 10/31/2025
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Found 196 publications
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
High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Journal: International journal of molecular sciences
Published: April 16, 2024
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
Journal: Connective tissue research
Published: April 11, 2024
Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families.
Journal: Molecular genetics and metabolism reports
Published: February 05, 2024
Tumour stage and overall survival in patients with intrahepatic cholangiocarcinoma and primary sclerosing cholangitis - a retrospective cohort study.
Journal: Zeitschrift fur Gastroenterologie
Published: January 09, 2024
Last Updated: 10/31/2025