MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours

Clin Endocrinol (Oxf). 2008 Apr;68(4):666-7. doi: 10.1111/j.1365-2265.2007.03056.x. Epub 2007 Sep 18.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Hirschsprung Disease / genetics*
  • Humans
  • Infant
  • Male
  • Multiple Endocrine Neoplasia Type 2a / diagnosis*
  • Multiple Endocrine Neoplasia Type 2a / genetics*
  • Mutation
  • Proto-Oncogene Proteins c-ret / genetics*

Substances

  • Proto-Oncogene Proteins c-ret
  • RET protein, human