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Clinical utility gene card for: Joubert syndrome--update 2013.

作者信息

Valente Enza Maria, Brancati Francesco, Boltshauser Eugen, Dallapiccola Bruno

机构信息

1] IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Rome, Italy [2] Department of Medicine and Surgery, University of Salerno, Salerno, Italy.

出版信息

Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.10. Epub 2013 Feb 13.

Abstract
摘要

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本文引用的文献

1
Joubert Syndrome and related disorders.
Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20.
2
The role of primary cilia in neuronal function.
Neurobiol Dis. 2010 May;38(2):167-72. doi: 10.1016/j.nbd.2009.12.022. Epub 2010 Jan 22.
3
Genotypes and phenotypes of Joubert syndrome and related disorders.
Eur J Med Genet. 2008 Jan-Feb;51(1):1-23. doi: 10.1016/j.ejmg.2007.11.003. Epub 2007 Nov 23.

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