Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies
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| Format: | Article |
| Language: | English |
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Medical Journals Sweden
2024-12-01
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| Series: | Acta Dermato-Venereologica |
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| Online Access: | https://medicaljournalssweden.se/actadv/article/view/40691 |
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| author | Nathalie Pironon Anne Welfringer-Morin Stéphanie Leclerc-Mercier Emmanuelle Bourrat Alain Hovnanian |
| author_facet | Nathalie Pironon Anne Welfringer-Morin Stéphanie Leclerc-Mercier Emmanuelle Bourrat Alain Hovnanian |
| author_sort | Nathalie Pironon |
| collection | DOAJ |
| format | Article |
| id | doaj-art-a500d3b268bd4aa588abaeb431015bbe |
| institution | OA Journals |
| issn | 0001-5555 1651-2057 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Medical Journals Sweden |
| record_format | Article |
| series | Acta Dermato-Venereologica |
| spelling | doaj-art-a500d3b268bd4aa588abaeb431015bbe2025-08-20T02:38:10ZengMedical Journals SwedenActa Dermato-Venereologica0001-55551651-20572024-12-0110410.2340/actadv.v104.40691Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous ScabiesNathalie Pironon0https://orcid.org/0000-0003-2070-7604Anne Welfringer-Morin1https://orcid.org/0000-0001-7479-3689Stéphanie Leclerc-Mercier2https://orcid.org/0000-0003-2468-3910Emmanuelle Bourrat3https://orcid.org/0000-0001-5375-738XAlain Hovnanian4https://orcid.org/0000-0003-3412-7512Laboratory of genetic skin diseases, Université Paris Cité, Inserm, UMR 1163, Institut Imagine, Paris, FranceDepartment of Dermatology, AP-HP, Hôpital Saint-Louis, Paris, FranceDepartment of Pathology, AP-HP, Hôpital Necker-Enfants Malades, Paris, FranceDepartment of Dermatology, AP-HP, Hôpital Saint-Louis, Paris, France; Centre de référence maladies rares MAGEC Nord Site Saint-Louis, Hôpital Saint-Louis, Paris, FranceUniversité Paris Cité, Inserm, UMR 1163, Institut Imagine, Laboratory of genetic skin diseases, Paris, France; Department of Genomic Medicine of Rare Diseases, AP-HP, Hôpital Necker-Enfants Malades, Paris, Francehttps://medicaljournalssweden.se/actadv/article/view/40691Epidermolysis Bullosa SimplexDystoninHemidesmosomeFocal Adhesion |
| spellingShingle | Nathalie Pironon Anne Welfringer-Morin Stéphanie Leclerc-Mercier Emmanuelle Bourrat Alain Hovnanian Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies Acta Dermato-Venereologica Epidermolysis Bullosa Simplex Dystonin Hemidesmosome Focal Adhesion |
| title | Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies |
| title_full | Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies |
| title_fullStr | Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies |
| title_full_unstemmed | Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies |
| title_short | Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies |
| title_sort | epidermolysis bullosa simplex due to a novel bpag1 e homozygous pathogenic variant revealed by bullous scabies |
| topic | Epidermolysis Bullosa Simplex Dystonin Hemidesmosome Focal Adhesion |
| url | https://medicaljournalssweden.se/actadv/article/view/40691 |
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