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Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4.

Sachie KasamiJunko Sowa-OsakoKazuyoshi FukaiSadao TokimasaShin-Ichiro KagaRyo SaitoAkio TanakaMichihiro HideDaisuke Tsuruta
Published in: The Journal of dermatology (2017)
Keyphrases
  • angiotensin converting enzyme
  • genome wide
  • intellectual disability
  • case report
  • copy number