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

Takeichi, T; Honda, A; Okuno, Y; Kojima, D; Kono, M; Nakamura, Y; Tohyama, M; Tanaka, T; Aoyama, Y; Akiyama, M.

Afiliación

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 en En | MEDLINE | ID: mdl-29851033

Asunto(s)

Condrodisplasia Punctata/genética; Fenotipo; Esteroide Isomerasas/genética; Esteroles/sangre; Biomarcadores/sangre; Condrodisplasia Punctata/sangre; Análisis Mutacional de ADN; Femenino; Humanos; Lactante; Masculino; Mutación

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Esteroide Isomerasas / Esteroles / Condrodisplasia Punctata Límite: Female / Humans / Infant / Male Idioma: En Revista: Br J Dermatol Año: 2018 Tipo del documento: Article País de afiliación: Japón

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