Browsing 2015 RD&E publications by Author "Zegre Amorim, M"

Now showing items 1-1 of 1

    • Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene 

      Zegre Amorim, M; Houghton, Jayne A. L.; Carmo, S; Salva, I; Pita, A; Pereira-da-Silva, L (Hindawi, 2015-11-24)
      A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular ...