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Article

The oligogenic properties of Bardet-Biedl syndrome.

Human molecular genetics - 1 Apr 2004

Katsanis Nicholas

Abstract excerpt

Bardet-Biedl syndrome (BBS: OMIM 209900) is a rare developmental disorder that exhibits significant clinical and genetic heterogeneity. Although modeled initially as a purely recessive trait, recent data have unmasked an oligogenic mode of disease transmission, in which mutations at different BBS loci can interact genetically in some families to cause and/or modify the phenotype. Here, I will review and discuss...

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Identifiers

PMID: 14976158
DOI: 10.1093/hmg/ddh092

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