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. 2013 Oct;21(10).

doi: 10.1038/ejhg.2013.10. Epub 2013 Feb 13.

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

Enza Maria Valente¹, Francesco Brancati, Eugen Boltshauser, Bruno Dallapiccola

Affiliations

Affiliation

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

PMID: 23403901
PMCID: PMC3778348
DOI: 10.1038/ejhg.2013.10

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

Enza Maria Valente et al. Eur J Hum Genet. 2013 Oct.

. 2013 Oct;21(10).

doi: 10.1038/ejhg.2013.10. Epub 2013 Feb 13.

Authors

Enza Maria Valente¹, Francesco Brancati, Eugen Boltshauser, Bruno Dallapiccola

Affiliation

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

PMID: 23403901
PMCID: PMC3778348
DOI: 10.1038/ejhg.2013.10

No abstract available

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References

1. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010;5:20. - PMC - PubMed
1. Lee JH, Gleeson JG. The role of primary cilia in neuronal function. Neurobiol Dis. 2010;38:167–172. - PMC - PubMed
1. Parisi M, Glass I.Joubert Syndrome and Related Disorders: GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1325/ 9 July 2003 (Access date); Last Revision: 14 June 2012.
1. Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 2008;51:1–23. - PubMed

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