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...

全面介紹

Na minha lista:
書目詳細資料
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.
格式: Artigo
語言:Inglês
出版: Elsevier 2014
主題:
Article
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍