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[Atypical Werner syndrome: Atypical progeroid syndrome: A case report].

作者信息

Barrios Sanjuanelo A, Muñoz Otero C

机构信息

Universidad del Norte, Barranquilla, Colombia.

出版信息

An Pediatr (Barc). 2010 Aug;73(2):94-7. doi: 10.1016/j.anpedi.2010.02.012. Epub 2010 May 10.

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).

摘要

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