Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.
| Autor: | McCarthy RL; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, The Royal London Hospital, Barts Health NHS Trust, London, UK., Gnanappiragasam D; Department of Dermatology, University Hospitals of Leicester NHS Trust, Leicester, UK., Scorer M; Department of Dermatology, University Hospitals of Leicester NHS Trust, Leicester, UK., Taylor M; Department of Dermatology, Epsom and St Helier University Hospitals NHS Trust, Surrey, UK., O'Toole EA; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, The Royal London Hospital, Barts Health NHS Trust, London, UK. |
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| Jazyk: | angličtina |
| Zdroj: | Clinical and experimental dermatology [Clin Exp Dermatol] 2023 Oct 25; Vol. 48 (11), pp. 1298-1300. |
| DOI: | 10.1093/ced/llad241 |
| Abstrakt: | Competing Interests: Conflicts of interest R.L.McC. has held a position funded by Palvella Therapeutics to work on a clinical trial (all unrelated to this work with all funding going to the university. D.G. has been a speaker for Lilly and La Roche-Posay (none applicable to this work). M.T. has been a speaker for AbbVie, Almirall, Eucerin, Janssen and Sanofi (none applicable to this work). E.O’T. has received research funding from Kamari Pharma and Unilever; consultancy fees from Azitra, Palvella Therapeutics and Kamari Pharma; and speaker’s fees from Almirall (all unrelated to this work with all funding going to the university). M.S. declares no conflicts of interest. |
| Databáze: | MEDLINE |
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