Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition

J Appl Genet. 2012 May;53(2):189-91. doi: 10.1007/s13353-012-0084-2.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Child, Preschool
  • Exons
  • Genes, Recessive
  • Homozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Malformations of Cortical Development / complications
  • Malformations of Cortical Development / genetics*
  • Malformations of Cortical Development / pathology
  • Megalencephaly / complications
  • Megalencephaly / genetics*
  • Megalencephaly / pathology
  • Nijmegen Breakage Syndrome / complications
  • Nijmegen Breakage Syndrome / genetics*
  • Nijmegen Breakage Syndrome / pathology
  • Nuclear Proteins / genetics*
  • Polymerase Chain Reaction
  • Sequence Deletion
  • Spine / pathology

Substances

  • Cell Cycle Proteins
  • NBN protein, human
  • Nuclear Proteins