Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome

Ophthalmic Genet. 2019 Feb;40(1):86. doi: 10.1080/13816810.2019.1582070.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Down Syndrome / complications*
  • Down Syndrome / genetics
  • Germ-Line Mutation*
  • Humans
  • Male
  • Prognosis
  • Retinal Neoplasms / etiology*
  • Retinal Neoplasms / pathology
  • Retinoblastoma / etiology*
  • Retinoblastoma / pathology
  • Retinoblastoma Binding Proteins / genetics*
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • RB1 protein, human
  • Retinoblastoma Binding Proteins
  • Ubiquitin-Protein Ligases