Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation

N Engl J Med. 2008 Jul 17;359(3):318-9. doi: 10.1056/NEJMc0801868.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Fatal Outcome
  • Female
  • Frameshift Mutation
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / diagnostic imaging
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Pregnancy
  • Protein-Serine-Threonine Kinases / genetics*
  • Pyruvate Dehydrogenase Acetyl-Transferring Kinase
  • Ultrasonography

Substances

  • Genetic Markers
  • Pyruvate Dehydrogenase Acetyl-Transferring Kinase
  • Protein-Serine-Threonine Kinases