Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy

Prenat Diagn. 2006 Apr;26(4):392-3. doi: 10.1002/pd.1420.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Codon, Nonsense
  • Consanguinity
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Gestational Age
  • Heterozygote
  • Humans
  • Parents
  • Polycystic Kidney, Autosomal Recessive / diagnosis*
  • Polycystic Kidney, Autosomal Recessive / genetics*
  • Pregnancy
  • Prenatal Diagnosis*
  • Receptors, Cell Surface / genetics

Substances

  • Codon, Nonsense
  • PKHD1 protein, human
  • Receptors, Cell Surface