A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.
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| Title: | A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report. |
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| Authors: | Goldoni M; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Torres B; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Pettinato M; Unit of Dermatology, University Hospital, Policlinico Vittorio Emanuele, Catania, Italy., Gennaro A; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy., Biagini T; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Condorelli AG; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Monetta R; Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy., Mazza T; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Bernardini L; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Mattina T; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy.; Mediterranean Foundation 'G.B. Morgagni', Catania, Italy. |
| Source: | Pediatric dermatology [Pediatr Dermatol] 2025 Mar-Apr; Vol. 42 (2), pp. 410-412. Date of Electronic Publication: 2024 Oct 23. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1525-1470 |
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| DOI: | 10.1111/pde.15764 |
