Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.

McCarthy, Rebecca L; Gnanappiragasam, Dushyanth; Scorer, Matthew; Taylor, Marisa; O'Toole, Edel A

McCarthy, Rebecca L; Gnanappiragasam, Dushyanth; Scorer, Matthew; Taylor, Marisa; O'Toole, Edel A.

Afiliación

McCarthy RL; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.
Gnanappiragasam D; Department of Dermatology, The Royal London Hospital, Barts Health NHS Trust, London, UK.
Scorer M; Department of Dermatology, University Hospitals of Leicester NHS Trust, Leicester, UK.
Taylor M; Department of Dermatology, University Hospitals of Leicester NHS Trust, Leicester, UK.
O'Toole EA; Department of Dermatology, Epsom and St Helier University Hospitals NHS Trust, Surrey, UK.

Clin Exp Dermatol ; 48(11): 1298-1300, 2023 10 25.

Article en En | MEDLINE | ID: mdl-37493199

Asunto(s)

Acroosteólisis; Enfermedad de Papillon-Lefevre; Humanos; Catepsina C/genética; Enfermedad de Papillon-Lefevre/genética; Mutación

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Papillon-Lefevre / Acroosteólisis Límite: Humans Idioma: En Revista: Clin Exp Dermatol Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido

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