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Last Updated: 10/31/2025
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Found 613 publications
Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.
Journal: Cureus
Published: July 14, 2025
Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype.
Journal: JACC. Case reports
Published: June 20, 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
Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.
Journal: International dental journal
Published: March 05, 2025
Labor Analgesia in a Patient With Beals Syndrome: A Case Report of Management Challenges.
Journal: Cureus
Published: February 19, 2025
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations.
Journal: Molecular genetics and metabolism reports
Published: November 06, 2024
Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.
Journal: European journal of medical genetics
Published: September 10, 2024
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Journal: Journal of medical genetics
Published: August 22, 2024
Facial dysmorphism and Limb abnormalities of Fetal Valproate Syndrome.
Journal: QJM : monthly journal of the Association of Physicians
Published: August 13, 2024
Last Updated: 10/31/2025