[Atypical Werner syndrome: Atypical progeroid syndrome: A case report].
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).
Barrios Sanjuanelo
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Universidad del Norte, Barranquilla, Colombia. alexbarrs50@hotmail.com
Muñoz Otero
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D002648:Child; D005260:Female; D006801:Humans; D010641:Phenotype; D014898:Werner Syndrome / Q000175:diagnosis* / Q000235:genetics