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

  • Publication Type: Conference Paper / Full Text
  • City: Kopenhag
  • Country: Denmark