A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly

Clin Genet. 2019 Apr;95(4):540-541. doi: 10.1111/cge.13495. Epub 2019 Jan 8.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amino Acid Substitution
  • Consanguinity
  • DNA Mutational Analysis
  • Genes, Recessive*
  • Genetic Association Studies*
  • Homozygote*
  • Humans
  • Mutation*
  • Pedigree
  • Phenotype
  • Polydactyly / diagnosis*
  • Polydactyly / genetics*
  • Radiography
  • Zinc Finger Protein GLI1 / genetics*

Substances

  • GLI1 protein, human
  • Zinc Finger Protein GLI1