Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022

Eur J Med Genet. 2023 Feb;66(2):104694. doi: 10.1016/j.ejmg.2022.104694. Epub 2022 Dec 31.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • DNA-Binding Proteins / genetics
  • Face / abnormalities
  • Hand Deformities, Congenital*
  • Hepatoblastoma* / genetics
  • Humans
  • Intellectual Disability*
  • Liver Neoplasms* / genetics
  • Micrognathism*
  • Neck / abnormalities
  • Transcription Factors / genetics

Substances

  • ARID1A protein, human
  • DNA-Binding Proteins
  • Transcription Factors

Supplementary concepts

  • Coffin-Siris syndrome