Carrying Multiple Mutations Linked to Severity of Bardet–Biedl Syndrome, Case Report Suggests
Carrying mutations in other genes besides those typically associated with Bardet–Biedl syndrome (BBS) likely contributes to the severity and diversity of the disorder, according to a case report on two brothers. The study, “Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome,” was published in the journal…