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Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.
Ziegler, Alban; Ebstein, Frédéric; Shamseldin, Hanan; Prouteau, Clément; Krüger, Elke; Binamer, Yousef M; Bonneau, Dominique; Alkuraya, Fowzan S; Martin, Ludovic.
Afiliação
  • Ziegler A; Department of Genetics.
  • Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.
  • Shamseldin H; Nantes Université, Inserm UMR 1087/CNRS UMR 6291, l'Institut du Thorax, 44000 Nantes, France.
  • Prouteau C; Department of Translational Genomics, Center for Genomic Medicine.
  • Krüger E; Department of Genetics.
  • Binamer YM; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.
  • Bonneau D; Department of Dermatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Genetics.
  • Martin L; Department of Translational Genomics, Center for Genomic Medicine.
Br J Dermatol ; 189(1): 131-132, 2023 07 07.
Article em En | MEDLINE | ID: mdl-37144643
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Hidradenite Supurativa Tipo de estudo: Risk_factors_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Hidradenite Supurativa Tipo de estudo: Risk_factors_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article