A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet

Clin Genet. 2012 Nov;82(5):502-4. doi: 10.1111/j.1399-0004.2012.01866.x. Epub 2012 Mar 20.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Frameshift Mutation / genetics*
  • Hand Deformities / diagnostic imaging
  • Hand Deformities / genetics
  • Humans
  • Kruppel-Like Transcription Factors / genetics*
  • Male
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phenotype
  • Polydactyly / diagnostic imaging
  • Polydactyly / genetics*
  • Radiography
  • Syndactyly / diagnostic imaging
  • Syndactyly / genetics*
  • Thumb / abnormalities*
  • Toes / abnormalities*
  • X-Rays
  • Zinc Finger Protein Gli3

Substances

  • GLI3 protein, human
  • Kruppel-Like Transcription Factors
  • Nerve Tissue Proteins
  • Zinc Finger Protein Gli3