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CASE REPORTS
ENGLISH ABSTRACT
JOURNAL ARTICLE
[Atypical Werner syndrome: Atypical progeroid syndrome: A case report].
Anales de Pediatría : Publicación Oficial de la Asociación Española de Pediatría (A.E.P.) 2010 August
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).
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