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See Latest ArticlesClinical and Molecular Characterization of Bardet-Biedl Syndrome in Consanguineous Populations: The Power of Homozygosity Mapping
Journal of Medical Genetics, 11/10/09
Safieh LA et al. – Some of these mutations would have been missed by unguided routine sequencing which suggests that missed mutations in known BBS genes could be more common than previously thought. This study, the largest to date on Saudi BBS families, also revealed interesting phenotypic aspects of BBS including the first report of nonsyndromic retinitis pigmentosa as a novel BBS phenotype.
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