Two forms of a disease in the same family: compound heterozygosity in the father and his sister both with corneal cystinosis, and heterozygous daughter and his other sister both having risks for nephropathic cystinosis


ÇELTİKÇİ B., Kazancı B.

European Human Genetics Virtual Conference, Berlin, Germany, 06 June 2020

  • Publication Type: Conference Paper / Full Text
  • City: Berlin
  • Country: Germany
  • Hacettepe University Affiliated: Yes