Article
Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.
American journal of medical genetics. Part A - 1 Oct 2026
Pomeroy Jeremy J, Richards Jesse, Sweeney Brooke R, Kumar Seema, Queen Katie E, Zaritsky Joshua, Cramer Carl H, Traboulsi Elias I, Scruggs Brittni A, Davis Erica E, Keifer Ekaterina, McGibbon Emma, Ogden Timothy, De Graaf Bendert, Hymers Tonia, Forsythe Elizabeth, Beales Philip
Abstract excerpt
Considerable advances have been made in our understanding of Bardet-Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence-based, and consensus-driven process, a multidisciplinary group of international experts and patient-led organizations developed an updated diagnostic algorithm....
Read the complete abstract on PubMedTopics
- Humans
- Algorithms
- Bardet-Biedl Syndrome
- Genetic Testing
- Obesity