Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

J Med Genet. 2001 Jul;38(7):470-2. doi: 10.1136/jmg.38.7.470.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blepharophimosis / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Chromosomes, Human, Pair 7 / genetics*
  • Codon, Nonsense / genetics*
  • Eyelids / abnormalities*
  • Female
  • Genes, Dominant / genetics
  • Genetic Heterogeneity
  • Genotype
  • Humans
  • India
  • Nuclear Proteins*
  • Phenotype
  • Syndrome
  • Transcription Factors / genetics*
  • Twist-Related Protein 1

Substances

  • Codon, Nonsense
  • Nuclear Proteins
  • TWIST1 protein, human
  • Transcription Factors
  • Twist-Related Protein 1