Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing

Prenat Diagn. 2022 Jun;42(7):890-893. doi: 10.1002/pd.6142. Epub 2022 Apr 11.
No abstract available

MeSH terms

  • Exome Sequencing
  • Exome*
  • Female
  • Humans
  • Hydrops Fetalis* / diagnosis
  • Hydrops Fetalis* / genetics
  • Ion Channels / genetics
  • Mutation

Substances

  • Ion Channels
  • PIEZO1 protein, human