Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 (centrosome and spindle pole associated protein 1) mutations in 19 JBTS-affec...

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Main Authors: Tuz, Karina, Bachmann-Gagescu, Ruxandra, O’Day, Diana R., Hua, Kiet, Isabella, Christine R., Phelps, Ian G., Stolarski, Allan E., O’Roak, Brian J., Dempsey, Jennifer C., Lourenco, Charles, Alswaid, Abdulrahman, Bönnemann, Carsten G., Medne, Livija, Nampoothiri, Sheela, Stark, Zornitza, Leventer, Richard J., Topçu, Meral, Cansu, Ali, Jagadeesh, Sujatha, Done, Stephen, Ishak, Gisele E., Glass, Ian A., Shendure, Jay, Neuhauss, Stephan C.F., Haldeman-Englert, Chad R., Doherty, Dan, Ferland, Russell J.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882733/
https://ncbi.nlm.nih.gov/pubmed/24360808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.11.019
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