Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Eur J Hum Genet. 2022 Sep;30(9):998-999. doi: 10.1038/s41431-022-01110-0. Epub 2022 May 24.
No abstract available

Publication types

  • Letter

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • Biological Variation, Population
  • Humans
  • Penetrance
  • Prader-Willi Syndrome*
  • Repressor Proteins / genetics

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Repressor Proteins
  • SIM1 protein, human