Article
Werner syndrome: clinical evaluation of two cases and a novel mutation.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2014
Mansur A T, Elçioglu N H, Demirci G T
Abstract excerpt
Werner syndrome (WS) is a premature aging disorder, inherited in an autosomal recessive pattern and caused by the mutation in the WRN gene. In this report we describe two male patients with negative family history who demonstrate characteristic findings of WS, with different mutations, including one novel mutation. The first case was a 47-year-old man who had been suffering from large, ischemic ulcers on both...
Topics
- Adult
- DNA Helicases
- Exodeoxyribonucleases
- Exons
- Humans
- Male
- Middle Aged
- Mutation
- RNA Splice Sites
- RecQ Helicases
- Sequence Deletion
- Werner Syndrome