Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome

J Med Genet. 2002 Feb;39(2):136-41. doi: 10.1136/jmg.39.2.136.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 16 / genetics
  • Dysostoses / genetics*
  • Humans
  • Male
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Proteins / genetics*
  • Repressor Proteins / genetics*
  • Syndrome
  • TRPP Cation Channels
  • Tuberous Sclerosis / genetics
  • 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