Literature DB >> 29851033

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

T Takeichi1, A Honda2, Y Okuno3,4, D Kojima4, M Kono1, Y Nakamura5, M Tohyama6, T Tanaka7, Y Aoyama8, M Akiyama1.   

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Year:  2018        PMID： 29851033     DOI： 10.1111/bjd.16823

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  1 in total

1.  Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.

Authors:  Akito Hasegawa; Satoru Shinkuma; Ryota Hayashi; Yutaka Shimomura; Riichiro Abe
Journal:  Acta Derm Venereol       Date:  2021-09-15       Impact factor: 3.875
  1 in total

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