Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

J Med Genet. 2001 Jun;38(6):E19. doi: 10.1136/jmg.38.6.e19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosome Aberrations*
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / metabolism
  • Deafness / genetics*
  • Deafness / metabolism
  • Facies
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / metabolism
  • Infant, Newborn
  • Male
  • Mutation
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Radiation Tolerance
  • Syndrome
  • X-Rays

Substances

  • Nuclear Proteins