A case of cohesinopathy with a novel de-novo SMC1A splice site mutation

Abstract

aDivision of Human Genetics bDivision of Neuropediatrics, University Children's Hospital, Inselspital, Bern, Switzerland cCeGaT GmbH, Tübingen, Germany Correspondence to Johannes R. Lemke, MD, Division of Human Genetics, University Children's Hospital, Inselspital, CH-3010 Bern, Switzerland Tel: [phone]; fax: [phone]; e-mail: [email protected] Received January 21, 2013 Accepted June 17, 2013