Homozygous novel variant in MUT in a patient with intellectual disability without metabolic derangement


ÜTİNE G. E., TAŞKIRAN Z. E., KOŞUKCU C., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., BODUROĞLU O. K., ...More

European Society of Human Genetics Conference 2017, Kopenhag, Denmark, 27 - 30 May 2017, (Full Text)

  • Publication Type: Conference Paper / Full Text
  • City: Kopenhag
  • Country: Denmark
  • Hacettepe University Affiliated: Yes