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Review
. 2001 Jun;11(3):317-21.
doi: 10.1016/s0959-437x(00)00196-9.

The molecular genetics of Bardet-Biedl syndrome

V C Sheffield  1 , D Nishimura, E M Stone
Affiliations
Review

The molecular genetics of Bardet-Biedl syndrome

V C Sheffield et al. Curr Opin Genet Dev. 2001 Jun.

Abstract

Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneous disorder involving genes mapping to at least six known loci. One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. MKKS codes for a putative chaperonin, suggesting that other BBS genes may also code for components of chaperone complexes or be substrates of chaperone function.

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