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Nature Medicine 7, 1110 (2001)
doi:10.1038/nm1001-1110
Research News
Alison Farrell, Charlotte Wang & Ushma Savla
Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous disorder that displays a collection of phenotypes including pigmentary retinal dystrophy, obesity, polydactyly, renal dysplasia and learning disabilities, among others. Six gene loci have been implicated in the disorder (BBS1 through BBS6), and two of these genes (BBS2 and BBS6) have recently been cloned.
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