Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

J Med Genet. 2003 Jul;40(7):520-5. doi: 10.1136/jmg.40.7.520.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Animals
  • Cell Line
  • Child
  • Family Health
  • Fatal Outcome
  • Female
  • Gene Deletion*
  • Haplotypes / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Mitosis / genetics
  • Mosaicism / genetics*
  • Neoplasm Proteins*
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / pathology
  • Pedigree
  • Recombination, Genetic*
  • Transcription Factors / genetics*

Substances

  • Neoplasm Proteins
  • SUZ12 protein, human
  • Transcription Factors