Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

Am J Med Genet A. 2010 Aug;152A(8):2115-9. doi: 10.1002/ajmg.a.33511.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Bone and Bones / abnormalities*
  • Bone and Bones / pathology
  • DNA-Binding Proteins / genetics*
  • Humans
  • Langer-Giedion Syndrome / genetics
  • Langer-Giedion Syndrome / pathology*
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Phenotype
  • Repressor Proteins
  • Sequence Homology, Amino Acid
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • Repressor Proteins
  • TRPS1 protein, human
  • Transcription Factors