A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected]

J Clin Pathol. 2014 Mar;67(3):283-4. doi: 10.1136/jclinpath-2013-201856. Epub 2013 Nov 4.
No abstract available

Keywords: DNA; GENETICS; POSTMORTEM; PREGNANCY.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Autopsy
  • Cell Cycle Proteins
  • DNA Mutational Analysis*
  • De Lange Syndrome / diagnosis
  • De Lange Syndrome / genetics*
  • Female
  • Fetal Death*
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Gestational Age
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Predictive Value of Tests
  • Pregnancy
  • Proteins / genetics*

Substances

  • Cell Cycle Proteins
  • NIPBL protein, human
  • Proteins