BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance.

Presents a study which evaluated the spectrum of mutations in a Bardet-Biedl syndrome loci with a combination of haplotype analysis and mutation screening on a multiethnic cohort of several families. Background on Bardet-Biedl syndrome; Involvement of the Bardet-Biedl syndrome loci in the establishment of loci pairing in triallelism; Implications of the findings.