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

Author:

Takeichi T.1ORCID,Honda A.2,Okuno Y.34,Kojima D.4,Kono M.1ORCID,Nakamura Y.5,Tohyama M.6,Tanaka T.7,Aoyama Y.8ORCID,Akiyama M.1

Affiliation:

1. Department of Dermatology; Nagoya University Graduate School of Medicine; 65 Tsurumai-cho, Showa-ku Nagoya 466-8550 Japan

2. Joint Research Center; Tokyo Medical University Ibaraki Medical Center; Ami Japan

3. Center for Advanced Medicine and Clinical Research; Nagoya University Hospital; Nagoya Japan

4. Department of Pediatrics; Nagoya University Graduate School of Medicine; 65 Tsurumai-cho, Showa-ku Nagoya 466-8550 Japan

5. Department of Pediatrics; Ichinomiya Municipal Hospital; Ichinomiya Japan

6. Department of Dermatology; Ehime University School of Medicine; Toon Japan

7. Department of Pediatrics; Kawasaki General Hospital; Kawasaki Medical School; Okayama Japan

8. Department of Dermatology; Kawasaki General Hospital; Kawasaki Medical School; Okayama Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Dermatology

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