Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins

Am J Med Genet A. 2008 Sep 1;146A(17):2304-7. doi: 10.1002/ajmg.a.32444.
No abstract available

Publication types

  • Case Reports
  • Twin Study

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Developmental Disabilities / genetics
  • Diseases in Twins / genetics
  • Esophagus / abnormalities
  • Female
  • Frameshift Mutation*
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Microcephaly / genetics*
  • Mutation, Missense*
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins / genetics*
  • Oncogene Proteins / genetics*
  • Pedigree
  • Syndrome
  • Twins, Monozygotic

Substances

  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins