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Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case.

Kenta IkedaTakuya TakeichiYasutoshi ItoYoshio KawakamiYuki NakagawaSeiko NaitoOsamu YamasakiMasashi AkiyamaShin Morizane
Published in: The Journal of dermatology (2020)
Keyphrases
  • early onset
  • copy number
  • genome wide
  • case report
  • hearing loss
  • genome wide identification
  • gene expression
  • transcription factor