An updated diagnostic algorithm of the rare #ciliopathy #bardetbiedlsyndrome #raredisease
onlinelibrary.wiley.com/doi/full/10....
onlinelibrary.wiley.com
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
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 diagn...