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To examine the oligogenic properties and genetic interactions contributing to Bardet-Biedl syndrome.

January 13, 2004Human Molecular GeneticsOpen Access

The oligogenic properties of Bardet-Biedl syndrome

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To examine the oligogenic properties and genetic interactions contributing to Bardet-Biedl syndrome.
Reviewed recent advances in genetic and cellular aspects of Bardet-Biedl syndrome.
Discussed interactions of mutations across different loci within families.
Identified that multiple mutations at different BBS loci can influence the expression and variation of symptoms.
Discussed implications for understanding the genetic basis of phenotypic variability.

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This review discusses genetic interactions in Bardet-Biedl syndrome, highlighting implications for phenotype variability.

Nicholas Katsanis (2004) studied this question.

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