Синдром Bardet-Biedl
Disease summary Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by retinal dystrophy, obesity, renal abnormalities, and genital abnormalities, postaxial polydactyly and learning difficulties. To date, mutations in more than 20 different genes have been described as being responsible for BBS (ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, […]