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Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.

Takuya TakeichiA HondaY OkunoD KojimaMichihiro KonoY NakamuraM TohyamaT TanakaYumi AoyamaM Akiyama
Published in: The British journal of dermatology (2018)
Keyphrases
  • poor prognosis
  • case report
  • binding protein