Avances en investigación de la discapacidad intelectual de origen genético: tratamientos experimentales en el síndrome X frágil

• Yolanda de Diego Otero ^[1] ; Lucía Pérez Costillas ^[1] ; Rocío Calvo Medina ^[1] ; Carolina Quintero Navarro ^[1] ; Isabel del Pino Benítez ^[1] ; Yolanda Casado Martín ^[1] ; Cristina Nogueira Cobas ^[1]
  1. [1] Hospital Regional Universitario de Málaga

     Hospital Regional Universitario de Málaga

     Málaga, España

     
• Localización: Revista Española de Discapacidad (REDIS), ISSN-e 2340-5104, Vol. 5, Nº. 1, 2017, págs. 217-227
• Idioma: español
• DOI: 10.5569/2340-5104.05.01.12
• Títulos paralelos:
  • Progress in research of intellectual disability caused by genetic disorders: experimental treatments for the fragile X syndrome
• Enlaces
  • Texto completo (pdf)
• Resumen

  • Dentro del contexto de la discapacidad intelectual y los trastornos del desarrollo infantil, la investigación se ha interesado en desvelar los mecanismos moleculares alterados por las mutaciones genéticas y en identificar los genes específicos que afectan funciones del sistema nervioso. Desde hace 25 años dedicamos nuestros esfuerzos a diagnosticar y desvelar los posibles mecanismos celulares que conducen a la sintomatología del síndrome X frágil (SXF) y el autismo, entre otros trastornos.

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