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

Sivan ReytanNoa Zunz HenigYoav YinonHagai AvnetAlina KurolapYuval YaronHagit Baris Feldman
Published in: Prenatal diagnosis (2022)
Keyphrases
  • early onset
  • single cell
  • copy number
  • gene expression
  • genome wide