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22 articles related to "Xeroderma"

Articles

Original Research

Published on 17 Jan 2022

XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil

in Genetics of Common and Rare Diseases

  • Ligia Pereira Castro
  • Danilo Batista-Vieira
  • Tiago Antonio de Souza
  • Ana Rafaela de Souza Timoteo
  • Jessica Dayanna Landivar Coutinho
  • Isabel Cristina Pinheiro de Almeida
  • Sheila Ramos de Miranda Henriques
  • Fabio Medeiros de Azevedo
  • Reginaldo Cruz Alves Rosa
  • Patricia L Kannouche
Frontiers in Genetics
doi 10.3389/fgene.2021.784963
  • 5,118 views
  • 5 citations

Case Report

Published on 16 Aug 2021

Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A

in Genetics of Common and Rare Diseases

  • Juan Antonio García-Carmona
  • Matthew J. Yousefzadeh
  • Fernando Alarcón-Soldevilla
  • Eva Fages-Caravaca
  • Tra L. Kieu
  • Mariah A. Witt
  • Ángel López-Ávila
  • Laura J. Niedernhofer
  • José Antonio Pérez-Vicente
Frontiers in Genetics
doi 10.3389/fgene.2021.717361
  • 3,059 views
  • 3 citations