Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations

Am J Med Genet A. 2007 Apr 1;143A(7):757-62. doi: 10.1002/ajmg.a.31617.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • Deafness / genetics*
  • Female
  • GATA3 Transcription Factor / genetics*
  • Genitalia, Female / abnormalities*
  • Humans
  • Hypoparathyroidism / genetics*
  • Kidney / abnormalities*
  • Middle Aged
  • Point Mutation
  • Sequence Deletion
  • Spain
  • Syndrome

Substances

  • GATA3 Transcription Factor
  • GATA3 protein, human

Associated data

  • OMIM/601362