Access : Clinical utility gene card for: Werner Syndrome : European Journal of Human Genetics

Access : Clinical utility gene card for: Werner Syndrome : European Journal of Human Genetics

Clinical Utility Gene Card Update

European Journal of Human Genetics , (3 September 2014) | doi:10.1038/ejhg.2014.171

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  • Fuki M Hisama
  • Christian Kubisch
  • George M Martin
  • Junko Oshima

Clinical utility gene card for: Werner Syndrome

Fuki M Hisama, Christian Kubisch, George M Martin and Junko Oshima

Abstract

Update to: European Journal of Human Genetics (2012) 20, doi:10.1038/ejhg.2011.265; published online 18 January 2012Werner Syndrome, Werner’s Syndrome, adult-onset progeria.277700.WRN (RECQL2, RECQ3)604611.More than 70 disease-causing variants have been reported. One or two mutations are identified in the majority of patients who fulfil clinical diagnostic criteria.