Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

J Med Genet. 2000 Feb;37(2):146-50. doi: 10.1136/jmg.37.2.146.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 16
  • Colon / metabolism
  • Colon / pathology
  • Exons
  • Facies
  • Female
  • Gene Duplication*
  • Genes, Neurofibromatosis 1 / genetics*
  • Humans
  • Intestinal Diseases / genetics*
  • Molecular Sequence Data
  • Neurofibromatosis 1 / genetics*
  • Pedigree
  • Translocation, Genetic*