Tricho-rhino-phalangeal type I syndrome and mental retardation: identification of a novel mutation in the TRPS1 gene

J Dermatol Sci. 2007 Oct;48(1):61-3. doi: 10.1016/j.jdermsci.2007.06.005. Epub 2007 Aug 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA-Binding Proteins / genetics*
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Mutation / genetics*
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / psychology
  • Phenotype
  • Repressor Proteins
  • Syndrome
  • Transcription Factors / genetics*

Substances

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