Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

J Med Genet. 2000 Aug;37(8):623-7. doi: 10.1136/jmg.37.8.623.
No abstract available

Publication types

  • Letter

MeSH terms

  • Branchio-Oto-Renal Syndrome / diagnosis
  • Branchio-Oto-Renal Syndrome / genetics*
  • Branchio-Oto-Renal Syndrome / physiopathology*
  • Chromosomes, Human*
  • Gene Rearrangement
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Protein Tyrosine Phosphatases
  • Trans-Activators / genetics*

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Trans-Activators
  • EYA1 protein, human
  • Protein Tyrosine Phosphatases