Sotos Syndrome with NSDI Gene Mutations and Li-Fraumeni Syndrome with TP53 Gene Mutations in a Patient with Multiple Gastric Signet-Ring Cell Carcinomas

Dig Dis Sci. 2024 Feb;69(2):315-317. doi: 10.1007/s10620-023-08229-0. Epub 2023 Dec 26.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carcinoma, Signet Ring Cell* / genetics
  • Genes, p53
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Li-Fraumeni Syndrome* / genetics
  • Mutation
  • Sotos Syndrome* / genetics
  • Stomach Neoplasms* / genetics
  • Tumor Suppressor Protein p53 / genetics

Substances

  • TP53 protein, human
  • Tumor Suppressor Protein p53