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Novel gross deletion mutation c.-105_4042+498del in the TNXB gene in a Japanese woman with classical-like Ehlers-Danlos syndrome: A case of uneventful pregnancy and delivery.

Shoko WatanabeYuki ItoOsamu SamuraHajime NakanoDaisuke SawamuraAkihiko AsahinaMunenari Itoh
Published in: The Journal of dermatology (2021)
Keyphrases
  • case report
  • preterm birth
  • copy number
  • genome wide
  • pregnancy outcomes
  • genome wide identification
  • children with cerebral palsy
  • gene expression
  • dna methylation
  • transcription factor