Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

被引：0
|
作者：
Gijs W E Santen
Emmelien Aten
Yu Sun
Rowida Almomani
Christian Gilissen
Maartje Nielsen
Sarina G Kant
Irina N Snoeck
Els A J Peeters
Yvonne Hilhorst-Hofstee
Marja W Wessels
Nicolette S den Hollander
Claudia A L Ruivenkamp
Gert-Jan B van Ommen
Martijn H Breuning
Johan T den Dunnen
Arie van Haeringen
Marjolein Kriek
机构：
[1] Center for Human and Clinical Genetics,Department of Human Genetics
[2] Leiden University Medical Center,Department of Child Neurology
[3] Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders,Department of Clinical Genetics
[4] Radboud University Nijmegen Medical Centre,Department of Clinical Genetics
[5] Juliana Children's Hospital–Haga Teaching Hospital,undefined
[6] Erasmus Medical Center,undefined
[7] Leiden Genome Technology Center,undefined
[8] Leiden University Medical Center,undefined
[9] Juliana Children's Hospital–Haga Teaching Hospital,undefined
来源：
Nature Genetics | 2012年 / 44卷
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摘要：
Gijs Santen and colleagues report mutations in the SWI/SNF subunit gene ARID1B in Coffin-Siris syndrome.
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页码：379 / 380
页数：1
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