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Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.
Takeichi, T; Honda, A; Okuno, Y; Kojima, D; Kono, M; Nakamura, Y; Tohyama, M; Tanaka, T; Aoyama, Y; Akiyama, M.
Afiliação
  • Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
  • Honda A; Joint Research Center, Tokyo Medical University Ibaraki Medical Center, Ami, Japan.
  • Okuno Y; Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan.
  • Kojima D; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
  • Kono M; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
  • Nakamura Y; Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
  • Tohyama M; Department of Pediatrics, Ichinomiya Municipal Hospital, Ichinomiya, Japan.
  • Tanaka T; Department of Dermatology, Ehime University School of Medicine, Toon, Japan.
  • Aoyama Y; Department of Pediatrics, Kawasaki General Hospital, Kawasaki Medical School, Okayama, Japan.
  • Akiyama M; Department of Dermatology, Kawasaki General Hospital, Kawasaki Medical School, Okayama, Japan.
Br J Dermatol ; 179(5): 1186-1188, 2018 11.
Article em En | MEDLINE | ID: mdl-29851033

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Esteroide Isomerases / Esteróis / Condrodisplasia Punctata Limite: Female / Humans / Infant / Male Idioma: En Revista: Br J Dermatol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Esteroide Isomerases / Esteróis / Condrodisplasia Punctata Limite: Female / Humans / Infant / Male Idioma: En Revista: Br J Dermatol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão