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Nagashima-type palmoplantar keratosis caused by biallelic maternal mutation of SERPINB7 with segmental uniparental disomy of chromosome 18q.

Michitaro HayakawaUmi TaharaNoriko OnoSatomi AokiTomoko KawaiKazuhiko NakabayashiKenichiro HataMasayuki AmagaiAkiharu Kubo
Published in: The Journal of dermatology (2020)
Keyphrases
  • intellectual disability
  • birth weight
  • pregnancy outcomes
  • copy number
  • pregnant women
  • autism spectrum disorder
  • gene expression
  • physical activity
  • body mass index
  • weight gain
  • genome wide
  • preterm birth