Bardet-Biedl syndrome
Definition
Bardet-Biedl syndrome (BBS) is a condition that primarily affects vision, kidney function, limb development, growth, and intelligence.
Description
BBS expresses itself differently from person to person, even among members of the same family. However, certain features frequently appear.
Genetic profile
BBS is a genetically heterogeneous condition; this means that it has more than one known genetic cause. One of these causes is a mutation in the MKKS gene, located on chromosome 20. When working properly, this gene appears to produce a chaperonin, a factor needed to process proteins. Without the chaperonin, the proteins cannot work...
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