Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome-Reference-Cited by-同舟云学术

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

Published:2013-04-09 Issue:8 Volume:132 Page:885-898
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Czeschik J. C.,Voigt C.,Alanay Y.,Albrecht B.,Avci S.,FitzPatrick D.,Goudie D. R.,Hehr U.,Hoogeboom A. J.,Kayserili H.,Simsek-Kiper P. O.,Klein-Hitpass L.,Kuechler A.,López-González V.,Martin M.,Rahmann S.,Schweiger B.,Splitt M.,Wollnik B.,Lüdecke H. -J.,Zeschnigk M.,Wieczorek D.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-013-1295-2.pdf

Reference23 articles.

1. Bernier FP, Caluseriu O, Ng S et al (2012) Haploinsufficiency of SF3B4, a component of the Pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90:925–933. doi: 10.1016/j.ajhg.2012.04.004

2. Chemke J, Mogilner BM, Ben-Itzhak I et al (1988) Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet 25:230–232

3. Church DM, Schneider VA, Graves T et al (2011) Modernizing reference genome assemblies. PLoS Biol 9:e1001091. doi: 10.1371/journal.pbio.1001091

4. Dauwerse JG, Dixon J, Seland S et al (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 43:20–22. doi: 10.1038/ng.724

5. DePristo MA, Banks E, Poplin R et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–498. doi: 10.1038/ng.806

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