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    • Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology 

      Ortega-Recalde, Oscar-Javier; Ine´s Vergara, Jéssica; Fonseca-Mendoza, Dora Janeth; Ríos, Xiomara; Mosquera, Hernando; Bermúdez, Olga; Medina, Claudia Liliana; Vargas, Clara; Pallares, Argemiro Enrique; Restrepo, Carlos Martín; Laissue, Paul
      Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected ...
       Artículo. 2013