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Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.

Ami HemmiKen OkamuraRyushi TazawaYuko AbeMasahiro HayashiShuji IzumiJun TohyamaYutaka ShimomuraYutaka HozumiTamio Suzuki
Published in: The Journal of dermatology (2017)
Keyphrases
  • case report
  • transcription factor
  • stem cells
  • genome wide
  • copy number
  • genome wide identification
  • gene expression
  • genome wide analysis