Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype-Reference-Cited by-同舟云学术

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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

Published:2017-01-25 Issue:3 Volume:136 Page:297-305
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Bramswig Nuria C.,Caluseriu O.,Lüdecke H.-J.,Bolduc F. V.,Noel N. C. L.,Wieland T.,Surowy H. M.,Christen H.-J.,Engels H.,Strom T. M.,Wieczorek D.

Funder

German Ministry of Research and Education

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-017-1757-z.pdf

Reference24 articles.

1. Allen AS et al (2013) De novo mutations in epileptic encephalopathies. Nature 501:217–221. doi: 10.1038/nature12439

2. Bramswig NC et al (2015) Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Hum Genet 134:553–568. doi: 10.1007/s00439-015-1535-8

3. Coffin GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433–439

4. Hargreaves DC, Crabtree GR (2011) ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Cell Res 21:396–420. doi: 10.1038/cr.2011.32

5. He L et al (2014) BAF200 is required for heart morphogenesis and coronary artery development. PLoS One 9:e109493. doi: 10.1371/journal.pone.0109493

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