{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:37:04Z","timestamp":1790026624197,"version":"4.0.1"},"reference-count":6,"publisher":"American Medical Association (AMA)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Dermatol"],"published-print":{"date-parts":[[2023,10,1]]},"abstract":"<jats:p>This case report describes an 11-year-old boy with widespread chronic wounds, frequent corneal erosions, dental caries, a tracheostomy, and failure to thrive.<\/jats:p>","DOI":"10.1001\/jamadermatol.2023.2077","type":"journal-article","created":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T15:01:02Z","timestamp":1692198062000},"page":"1145","source":"Crossref","is-referenced-by-count":8,"title":["Treatment With Ataluren for Wound Healing and Health Complications in a Patient With Junctional Epidermolysis Bullosa"],"prefix":"10.1001","volume":"159","author":[{"given":"Gregory M.","family":"Orlowski","sequence":"first","affiliation":[{"name":"Department of Dermatology, Boston University, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya U.","family":"Amano","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Maine Medical Center, Portland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly E.","family":"Flanagan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of Massachusetts Chan Medical School, Worcester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerri E.","family":"Rieger","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pathology, Stanford University, Palo Alto, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Peter","family":"Marinkovich","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Stanford University School of Medicine, Stanford, California"},{"name":"Division of Dermatology, Palo Alto VA Medical Center, Palo Alto, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Wiss","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of Massachusetts Chan Medical School, Worcester"},{"name":"Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"4","key":"dlo230012r1","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1111\/bjd.v183.4","article-title":"Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.","volume":"183","author":"Has","year":"2020","journal-title":"Br J Dermatol"},{"issue":"8","key":"dlo230012r2","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1136\/jmg.2005.039685","article-title":"Epidermolysis bullosa. I. molecular genetics of the junctional and hemidesmosomal variants.","volume":"43","author":"Varki","year":"2006","journal-title":"J Med Genet"},{"issue":"7140","key":"dlo230012r3","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/nature05756","article-title":"PTC124 targets genetic disorders caused by nonsense mutations.","volume":"447","author":"Welch","year":"2007","journal-title":"Nature"},{"key":"dlo230012r4","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1146\/med.2013.64.issue-1","article-title":"Ataluren as an agent for therapeutic nonsense suppression.","volume":"64","author":"Peltz","year":"2013","journal-title":"Annu Rev Med"},{"issue":"4","key":"dlo230012r5","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1001\/jamadermatol.2021.5992","article-title":"Molecular and clinical outcomes after intravenous gentamicin treatment for patients with junctional epidermolysis bullosa caused by nonsense variants.","volume":"158","author":"Mosallaei","year":"2022","journal-title":"JAMA Dermatol"},{"issue":"5","key":"dlo230012r6","doi-asserted-by":"publisher","first-page":"1327","DOI":"10.1016\/j.ymthe.2020.03.006","article-title":"Gentamicin induces laminin 332 and improves wound healing in junctional epidermolysis bullosa patients with nonsense mutations.","volume":"28","author":"Kwong","year":"2020","journal-title":"Mol Ther"}],"container-title":["JAMA Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamadermatology\/articlepdf\/2808642\/jamadermatology_orlowski_2023_lo_230012_1697555538.19458.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T15:09:14Z","timestamp":1697641754000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamadermatology\/fullarticle\/2808642"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,1]]},"references-count":6,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamadermatol.2023.2077","relation":{},"ISSN":["2168-6068"],"issn-type":[{"value":"2168-6068","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10,1]]}}}