{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:35:56Z","timestamp":1781109356320,"version":"3.54.1"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T00:00:00Z","timestamp":1729641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by fragility of the skin and mucous membranes due to alterations in the dermal epidermal junction. This condition manifests as mechanically induced bullous lesions that heal with hypertrophic granulation tissue and\/or atrophic scars. Here, we report two brothers carrying a homozygous\n                    <jats:italic>LAMB3<\/jats:italic>\n                    missense variant, p.Gly254Asp, which affects the N\u2010terminal end of the laminin\u2010332 (LM332) \u03b23 chain, previously described in another JEB family sharing a common ethnic origin and\n                    <jats:italic>LAMB3<\/jats:italic>\n                    haplotype with the siblings reported here. Moreover, all affected patients with p.Gly254Asp mutation from both families exhibits a distinct phenotype consisting of a few localized long\u2010standing skin lesions characterized by excessive granulation tissue formation or keloid scars, without new blistering, and associated with amelogenesis imperfecta. Our patients also showed nail dystrophy, expanding the phenotypic spectrum and confirming the peculiar role of the N\u2010terminal end of the \u03b23 chain in regulating the granulation tissue response associated with the wound healing process.\n                  <\/jats:p>","DOI":"10.1111\/pde.15764","type":"journal-article","created":{"date-parts":[[2024,10,24]],"date-time":"2024-10-24T00:07:59Z","timestamp":1729728479000},"page":"410-412","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Missense Variant Affecting the N\u2010Terminal Domain of the Laminin\u2010332 \u03b23 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation\u00a0Tissue Response and No New Blistering: A\u00a0Second Family Report"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5196-9618","authenticated-orcid":false,"given":"Marina","family":"Goldoni","sequence":"first","affiliation":[{"name":"Medical Genetics Division IRCCS Casa Sollievo della Sofferenza Hospital  San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Torres","sequence":"additional","affiliation":[{"name":"Medical Genetics Division IRCCS Casa Sollievo della Sofferenza Hospital  San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Pettinato","sequence":"additional","affiliation":[{"name":"Unit of Dermatology University Hospital, Policlinico Vittorio Emanuele  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Gennaro","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences, Medical Genetics University of Catania  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Biagini","sequence":"additional","affiliation":[{"name":"Bioinformatics Unit IRCCS Casa Sollievo della Sofferenza Hospital  San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo Giuseppe","family":"Condorelli","sequence":"additional","affiliation":[{"name":"Genodermatosis Unit, Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Monetta","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Cell Biology IDI\u2010IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0434-8533","authenticated-orcid":false,"given":"Tommaso","family":"Mazza","sequence":"additional","affiliation":[{"name":"Bioinformatics Unit IRCCS Casa Sollievo della Sofferenza Hospital  San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3554-2817","authenticated-orcid":false,"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Medical Genetics Division IRCCS Casa Sollievo della Sofferenza Hospital  San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Mattina","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences, Medical Genetics University of Catania  Catania Italy"},{"name":"Mediterranean Foundation \u201cG.B. Morgagni\u201d  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,23]]},"reference":[{"key":"e_1_2_1_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572\u2010020\u20100210\u20100"},{"key":"e_1_2_1_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbx006"},{"key":"e_1_2_1_7_4_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20102439"},{"key":"e_1_2_1_7_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI68127"},{"key":"e_1_2_1_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2011.03.011"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15764","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T10:03:18Z","timestamp":1765533798000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15764"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,23]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1111\/pde.15764"],"URL":"https:\/\/doi.org\/10.1111\/pde.15764","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,23]]},"assertion":[{"value":"2024-02-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}