Germinal mosaicism of GATA3 in a family with HDR syndrome

Am J Med Genet A. 2009 Feb 15;149A(4):776-8. doi: 10.1002/ajmg.a.32706.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Asian People / genetics
  • Base Sequence
  • Child, Preschool
  • China
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Female
  • GATA3 Transcription Factor / genetics*
  • Haplotypes
  • Hearing Loss, Sensorineural / genetics*
  • Heterozygote
  • Humans
  • Hypoparathyroidism / genetics*
  • Kidney / abnormalities*
  • Male
  • Mosaicism*
  • Pedigree
  • Syndrome

Substances

  • Codon, Nonsense
  • GATA3 Transcription Factor
  • GATA3 protein, human