Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Published:2014-03-27 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Sim Joe C H,White Susan M,Fitzpatrick Elizabeth,Wilson Gabrielle R,Gillies Greta,Pope Kate,Mountford Hayley S,Torring Pernille M,McKee Shane,Vulto-van Silfhout Anneke T,Jhangiani Shalini N,Muzny Donna M,Leventer Richard J,Delatycki Martin B,Amor David J,Lockhart Paul J

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1186/1750-1172-9-43.pdf

Reference23 articles.

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4. Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M: Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet. 2012, 44: 379-380. 10.1038/ng.2217.

5. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, et al: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012, 44: 376-378. 10.1038/ng.2219.

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