Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

Clin Genet. 2014 Mar;85(3):293-5. doi: 10.1111/cge.12147. Epub 2013 Apr 14.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Hemolytic, Congenital / complications*
  • Anemia, Hemolytic, Congenital / diagnosis
  • Anemia, Hemolytic, Congenital / genetics*
  • Chromosome Segregation
  • Heterozygote
  • Humans
  • Hydrops Fetalis / diagnosis
  • Hydrops Fetalis / etiology*
  • Hydrops Fetalis / genetics
  • Ion Channels / genetics*
  • Mutation*
  • Pedigree
  • Phenotype

Substances

  • Ion Channels
  • PIEZO1 protein, human

Supplementary concepts

  • Xerocytosis, hereditary