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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Goldoni+M%22">Goldoni M</searchLink>; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Torres+B%22">Torres B</searchLink>; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Pettinato+M%22">Pettinato M</searchLink>; Unit of Dermatology, University Hospital, Policlinico Vittorio Emanuele, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Gennaro+A%22">Gennaro A</searchLink>; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Biagini+T%22">Biagini T</searchLink>; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Condorelli+AG%22">Condorelli AG</searchLink>; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Monetta+R%22">Monetta R</searchLink>; Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mazza+T%22">Mazza T</searchLink>; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Bernardini+L%22">Bernardini L</searchLink>; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.<br /><searchLink fieldCode="AU" term="%22Mattina+T%22">Mattina T</searchLink>; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy.; Mediterranean Foundation 'G.B. Morgagni', Catania, Italy.
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  Data: <searchLink fieldCode="JN" term="%228406799%22">Pediatric dermatology</searchLink> [Pediatr Dermatol] 2025 Mar-Apr; Vol. 42 (2), pp. 410-412. <i>Date of Electronic Publication: </i>2024 Oct 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8406799 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1525-1470 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2207368046%22">07368046 </searchLink><i>NLM ISO Abbreviation: </i>Pediatr Dermatol <i>Subsets: </i>MEDLINE
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              Text: 2025 Mar-Apr
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