Arquivo
VARIANT RETT SYNDROME IN A GIRL WITH A PERICENTRIC X-CHROMOSOME INVERSION LEADING TO EPIGENETIC CHANGES AND OVEREXPRESSION OF THE MECP2 GENE
Jose Pedro Vieira1, Fatima Lopes2,3, Anabela Silva-Fernandes2,3, Maria Vania Sousa1, Sofia Moura2,3, Susana Sousa2,3, Bruno M. Costa2,3, Mafalda Barbosa4,5, Bauke Ylstra6, Teresa Temudo7, Teresa Lourenco1, Patricia Maciel2,3