Prenatal diagnostic conundrum involving a novel ATP7A duplication

Clin Genet. 2013 Jul;84(1):97-8. doi: 10.1111/cge.12041. Epub 2012 Nov 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Cation Transport Proteins / genetics*
  • Copper-Transporting ATPases
  • Diagnostic Errors*
  • Exons
  • Female
  • Gene Duplication
  • Genetic Testing
  • Humans
  • Incidental Findings
  • Infant, Newborn
  • Male
  • Menkes Kinky Hair Syndrome / diagnosis*
  • Menkes Kinky Hair Syndrome / genetics*
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Cation Transport Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases