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PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations

Hidradenitis suppurativa and Dowling-Degos disease are two independent rare diseases with characteristic clinical manifestations. The PSENEN gene encodes a critical subunit of the γ-secretase complex, mutations of which can independently or concurrently lead to hidradenitis suppurativa and Dowling-D...

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書誌詳細
主要な著者: Qiuhe Song, Chaowen Zhang, Pengfei Xu, Jianqiao Wang, Fangfang Liao, Qipeng Xiao, Yousheng Mao
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2025-05-01
シリーズ:Frontiers in Medicine
主題:
オンライン・アクセス:https://www.frontiersin.org/articles/10.3389/fmed.2025.1542909/full
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