Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Clin Genet. 2014 Dec;86(6):595-7. doi: 10.1111/cge.12333. Epub 2014 Jan 26.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins
  • De Lange Syndrome / genetics*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Infant
  • Mosaicism
  • Mutation*
  • Proteins / genetics*

Substances

  • Cell Cycle Proteins
  • NIPBL protein, human
  • Proteins