Sindrome di Bardet-Biedel

di riferimento • Braun JJ, Noblet V, Kremer S, Molière S, et al. Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome. Clin Genet 2016;90(1):79-83. doi: 10.1111/cge.12697. • Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet 2013;21(1):8-13. doi: 10.1038/ejhg.2012.115. • Forsyth RL, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [Updated 2023 Mar 23]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. • Haws RM, McIntee TJ, Green CB. Cutaneous findings in Bardet-Biedl syndrome. Int J Dermatol 2019;58(10):1160-1164. doi: 10.1111/ijd.14412. • Kerr EN, Bhan A, Héon E. Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. Clin Genet 2016;89(4):426-33. doi: 10.1111/cge.12614. • Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM. Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. J Pediatr 2019;204:31-7. doi: 10.1016/j.jpeds. 2018.08.068. • Rasel M, Istiak A, Saiara A, Al-Jubair A, Matin S, Roy GC. Bardet-Biedl syndrome: Delayed diagnosis in a 14-year-old child with end-stage renal disease. Clin Case Rep 2023;11(7):e7649. doi: 10.1002/ccr3.7649. • Selicorni A, Zampino G, Memo L, Scarano G. Le sindromi malformative: una guida per il pediatra. Collana Monografica della Società Italiana di Pediatria. Edizione 2017. • Weihbrecht K, Goar WA, Pak T, et al. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Med Res Arch 2017;5(9):10.18103/ mra.v5i9.1526. doi: 10.18103/mra.v5i9.1526.