Journal Article

The oligogenic properties of Bardet–Biedl syndrome

Nicholas Katsanis

in Human Molecular Genetics

Volume 13, issue suppl_1, pages R65-R71
Published in print April 2004 | ISSN: 0964-6906
Published online February 2004 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddh092
The oligogenic properties of Bardet–Biedl syndrome

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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 recent advances in elucidating both genetic and cellular aspects of this phenotype and their potential application in understanding the genetic basis of phenotypic variability and oligogenic inheritance.

Journal Article.  5009 words.  Illustrated.

Subjects: Genetics and Genomics

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