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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group 2016
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars