Molecular genetic testing is available on a clinical basis for p.M390R, the common mutation in BBS1 that is present in approximately 18% - 32% of individuals with BBS and p.C91LfsX4 (also known as C91fsX95), a common mutation in BBS10, that is present [scielo.br]

Treatment of gingival overgrowth in a child with Bardet-Biedl syndrome. J Periodontol. 2007;78(6):1159-63. [ Links ] 3. Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F. [scielo.br]

Diagnosis of the condition is important for visual prognosis and low vision management. Ophthalmologic and electrophysiological examinations are essential for confirmation and correct diagnosis of BBS(5). [scielo.br]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet. 2005; 132(4):352-60. [ Links ] 8. Bek T, Rosenberg T. [scielo.br]