Identification of an exonic deletion in the Polyglutamine Binding Protein 1 (PQBP1) gene causing syndromic mental retardation in a male patient and epilepsy in his heterozygous mother uri icon

autores

  • Patrícia Espinheira de Sá Maciel
  • Lopes, S.
  • Lopes, F.
  • Soares, G.
  • Gomes, C.
  • Barros, G.
  • Maciel, P.

data de publicação

  • junho 1, 2010