Thematic Area: Bardet-Biedl Syndrome

Expert recommendation(s)

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Reference:  Dollfus, H., Lilien, M.R., Maffei, P. et al. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet (2024). doi.org/10.1038/s41431-024-01634-7