Browsing by Author "O'Callaghan C., Maria del Mar"

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    • The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome 
      Vidal, S.; Brandi, N.; Pacheco, P.; Maynou, J.; Fernandez, G.; Xiol, C.; Pascual-Alonso, A.; Pineda, M.; O'Callaghan C., Maria del Mar; Garcia-Cazorla, Àngels; Serrano Munuera, Maria; García, Silvia Cuso; Troncoso, Monica; Fariña, Guillermo; García Peñas, Ju (W.B. Saunders Ltd, 2019)
      Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although ...