[Recessive autosomic polycystic kidney in a Tunisian family: correlation between genotype and phenotype?]

Tunis Med. 2010 Jan;88(1):68-9.
[Article in French]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosomes, Human, Pair 6 / genetics*
  • Consanguinity
  • Esophageal and Gastric Varices / genetics
  • Exons / genetics
  • Female
  • Genetic Markers / genetics
  • Genetic Testing
  • Genotype
  • Hematemesis / genetics
  • Hepatomegaly / genetics
  • Humans
  • Infant
  • Mutation, Missense*
  • Phenotype
  • Polycystic Kidney, Autosomal Recessive / diagnosis
  • Polycystic Kidney, Autosomal Recessive / genetics*
  • Receptors, Cell Surface / genetics*
  • Splenomegaly / genetics
  • Tunisia

Substances

  • Genetic Markers
  • PKHD1 protein, human
  • Receptors, Cell Surface