Literature DB >> 20452840

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

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.

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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


  1 in total

1.  POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Authors:  Davor Lessel; Fuki M Hisama; Katalin Szakszon; Bidisha Saha; Alexander Barrios Sanjuanelo; Bonnie A Salbert; Pamela D Steele; Jennifer Baldwin; W Ted Brown; Charles Piussan; Henri Plauchu; Judit Szilvássy; Edit Horkay; Josef Högel; George M Martin; Alan J Herr; Junko Oshima; Christian Kubisch
Journal:  Hum Mutat       Date:  2015-08-06       Impact factor: 4.878

  1 in total

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