Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET

J Med Genet. 2001 Nov;38(11):784-7. doi: 10.1136/jmg.38.11.784.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alleles
  • Carcinoma, Medullary / genetics*
  • Carcinoma, Medullary / pathology
  • Cornea / innervation*
  • Cornea / pathology
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Drosophila Proteins*
  • Family Health
  • Female
  • Germ-Line Mutation
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense
  • Pedigree
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / pathology

Substances

  • Drosophila Proteins
  • Proto-Oncogene Proteins
  • DNA
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases
  • Ret protein, Drosophila