Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease

J Med Genet. 2003 Feb;40(2):E17. doi: 10.1136/jmg.40.2.e17.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16 / genetics
  • Female
  • Follow-Up Studies
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Polycystic Kidney Diseases / genetics*
  • Proteins / genetics*
  • Repressor Proteins / genetics*
  • TRPP Cation Channels
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

  • Proteins
  • Repressor Proteins
  • TRPP Cation Channels
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • polycystic kidney disease 1 protein