Article
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Human genetics - 1 Jan 2011
Janssen Sabine, Ramaswami Gokul, Davis Erica E, Hurd Toby, Airik Rannar, Kasanuki Jennifer M, Van Der Kraak Lauren, Allen Susan J, Beales Philip L, Katsanis Nicholas, Otto Edgar A, Hildebrandt Friedhelm
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a rare, primarily autosomal-recessive ciliopathy. The phenotype of this pleiotropic disease includes retinitis pigmentosa, postaxial polydactyly, truncal obesity, learning disabilities, hypogonadism and renal anomalies, among others. To date, mutations in 15 genes (BBS1-BBS14, SDCCAG8) have been described to cause BBS. The broad genetic locus heterogeneity renders mutation screening...
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