Presence of compound heterozygous mutations in the PHKD1 gene in an asymptomatic patient

Nefrologia (Engl Ed). 2020 Nov-Dec;40(6):672-673. doi: 10.1016/j.nefro.2020.04.010. Epub 2020 Jun 19.
[Article in English, Spanish]
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Female
  • Heterozygote*
  • Humans
  • Kidney Diseases, Cystic / diagnostic imaging
  • Male
  • Mutation*
  • Parents
  • Polycystic Kidney, Autosomal Recessive / genetics*
  • Receptors, Cell Surface / genetics*
  • Siblings

Substances

  • PKHD1 protein, human
  • Receptors, Cell Surface