Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes

J Med Genet. 2001 Mar;38(3):178-82. doi: 10.1136/jmg.38.3.178.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 7 / genetics*
  • Chromosomes, Human, Pair 8 / genetics
  • DNA-Binding Proteins / genetics
  • Face / abnormalities
  • Homeodomain Proteins
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / pathology
  • Karyotyping
  • Kruppel-Like Transcription Factors
  • Male
  • Nerve Tissue Proteins*
  • Nuclear Proteins*
  • Repressor Proteins*
  • Trans-Activators / genetics
  • Transcription Factors / genetics*
  • Trisomy*
  • Twist-Related Protein 1
  • Xenopus Proteins*
  • Zinc Finger Protein Gli3

Substances

  • DNA-Binding Proteins
  • GLI3 protein, Xenopus
  • GLI3 protein, human
  • Gli3 protein, mouse
  • Homeodomain Proteins
  • Kruppel-Like Transcription Factors
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • TWIST1 protein, human
  • Trans-Activators
  • Transcription Factors
  • Twist-Related Protein 1
  • Xenopus Proteins
  • Zinc Finger Protein Gli3
  • HoxA protein