Rapid umbilical cord diagnostic of hereditary profound hearing loss: how we do it

Clin Otolaryngol. 2009 Aug;34(4):374-6. doi: 10.1111/j.1749-4486.2009.01958.x.
No abstract available

MeSH terms

  • Alleles
  • Chromosome Aberrations
  • Chromosome Deletion
  • Connexin 26
  • Connexin 30
  • Connexins / genetics*
  • DNA Mutational Analysis*
  • Deafness / diagnosis*
  • Deafness / genetics*
  • Female
  • Genes, Recessive / genetics
  • Genetic Carrier Screening
  • Genetic Testing*
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Transport Proteins / genetics*
  • Polymerase Chain Reaction
  • Sulfate Transporters
  • Syndrome
  • Tomography, X-Ray Computed
  • Umbilical Cord / metabolism*
  • Vestibular Aqueduct / abnormalities

Substances

  • Connexin 30
  • Connexins
  • GJB6 protein, human
  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Connexin 26