Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12

Am J Med Genet A. 2007 Aug 1;143A(15):1806-8. doi: 10.1002/ajmg.a.31818.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 6*
  • Female
  • Genes, Recessive
  • Genetic Linkage*
  • Humans
  • Infant
  • Karyotyping
  • Kidney / abnormalities*
  • Liver / abnormalities*
  • Male
  • Pancreas / abnormalities*
  • Pedigree
  • Receptors, Cell Surface / genetics*

Substances

  • PKHD1 protein, human
  • Receptors, Cell Surface