Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

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 st...

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Veröffentlicht in:Sci Rep
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2016
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5052523/
https://ncbi.nlm.nih.gov/pubmed/27708425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep34764
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