A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype

J Med Genet. 2000 Jun;37(6):458-60. doi: 10.1136/jmg.37.6.458.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Branchio-Oto-Renal Syndrome / diagnosis
  • Branchio-Oto-Renal Syndrome / genetics*
  • Branchio-Oto-Renal Syndrome / physiopathology
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • SALL1 protein, human
  • Transcription Factors