| Literature DB >> 20452840 |
A Barrios Sanjuanelo1, C Muñoz Otero.
Abstract
Progeria is a premature ageing syndrome. Werner Syndrome (WS) is a type of progeria in the adult which includes bilateral juvenile cataracts and cutaneous sclerodermiform changes; it is caused by a mutation if the WRN gene which codes a helicase, a DNA repair enzyme. A case is presented of a patient, a 12 year old girl, with characteristics of WS but with no identifiable mutation in the WRN gene, therefore it was classified as atypical Werner Syndrome (AWS). 2009 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.Entities:
Mesh:
Year: 2010 PMID: 20452840 DOI: 10.1016/j.anpedi.2010.02.012
Source DB: PubMed Journal: An Pediatr (Barc) ISSN: 1695-4033 Impact factor: 1.500