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

  1. Dollfus, H.
  2. Lilien, M.R.
  3. Maffei, P.
  4. Verloes, A.
  5. Muller, J.
  6. Bacci, G.M.
  7. Cetiner, M.
  8. van den Akker, E.L.T.
  9. Grudzinska Pechhacker, M.
  10. Testa, F.
  11. Lacombe, D.
  12. Stokman, M.F.
  13. Simonelli, F.
  14. Gouronc, A.
  15. Gavard, A.
  16. van Haelst, M.M.
  17. Koenig, J.
  18. Rossignol, S.
  19. Bergmann, C.
  20. Zacchia, M.
  21. Leroy, B.P.
  22. Mosbah, H.
  23. Van Eerde, A.M.
  24. Mekahli, D.
  25. Servais, A.
  26. Poitou, C.
  27. Valverde, D.
  28. Show all authors +
Journal:
European Journal of Human Genetics

ISSN: 1476-5438 1018-4813

Year of publication: 2024

Type: Review

DOI: 10.1038/S41431-024-01634-7 GOOGLE SCHOLAR lock_openOpen access editor