Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss

Am J Med Genet A. 2007 Feb 15;143(4):385-6. doi: 10.1002/ajmg.a.31553.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Chromosomes, Human, Pair 13*
  • Connexin 26
  • Connexins / genetics*
  • Female
  • Gene Frequency
  • Hearing Loss / genetics*
  • Homozygote*
  • Humans
  • Male
  • Sequence Deletion*
  • Uniparental Disomy*

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26