Article
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Scientific reports - 6 Oct 2016
Maria Maleeha, Lamers Ideke J C, Schmidts Miriam, Ajmal Muhammad, Jaffar Sulman, Ullah Ehsan, Mustafa Bilal, Ahmad Shakeel, Nazmutdinova Katia, Hoskins Bethan, van Wijk Erwin, Koster-Kamphuis Linda, Khan Muhammad Imran, Beales Phil L, Cremers Frans P M, Roepman Ronald, Azam Maleeha, Arts Heleen H, Qamar Raheel
Abstract excerpt
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell's signaling hub. In the current study, a combination of mutation screening, targeted sequencing of ciliopathy genes associated with BBS, and...
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