A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome

J Endocrinol Invest. 2006 Oct;29(9):851-3. doi: 10.1007/BF03347383.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics
  • Base Sequence
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Female
  • Frameshift Mutation
  • GATA3 Transcription Factor / genetics*
  • Gene Deletion
  • Humans
  • Hypoparathyroidism / genetics*
  • Male
  • Middle Aged
  • Multicystic Dysplastic Kidney / genetics*
  • Syndrome

Substances

  • GATA3 Transcription Factor