{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T16:16:07Z","timestamp":1778170567165,"version":"3.51.4"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T00:00:00Z","timestamp":1736467200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100002077","name":"Epidermolysis Bullosa Research Partnership","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002077","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019216","name":"and","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019216","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016220","name":"CTSA","doi-asserted-by":"publisher","award":["UM1 TR004399"],"award-info":[{"award-number":["UM1 TR004399"]}],"id":[{"id":"10.13039\/100016220","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder caused by pathogenic variants in COL7A1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To determine the association between different COL7A1 variants and clinical disease severity in 236 North American patients with RDEB.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Published reports or in silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function. Three impact categories were postulated: genotypes that would be likely to cause a low impact on C7 function (splice B\/missense, missense\/missense); a medium impact [premature termination codon (PTC)\/splice B, splice A\/splice B, PTC\/missense, splice A\/missense, splice B\/splice B]; and a high impact (PTC\/PTC, PTC\/splice A, splice A\/splice A). Splice A variants are predicted to cause downstream PTCs, while splice B variants cause in-frame exon skipping and are therefore less deleterious.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The severity of functional impact was significantly associated with a history of gastrostomy tube placement, oesophageal dilation, hand surgery, anaemia, renal disease, chronic wounds, diffuse skin involvement and a history of squamous cell carcinoma. The odds of death were 3.5 time higher in the high-impact vs. medium-impact group (95% confidence interval 1.24\u20138.50; P = 0.02). Patients in the high-impact group had worse clinical outcomes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Functional genotype categories are a feasible approach to risk-stratify patients based on predicted C7 function.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bjd\/ljaf015","type":"journal-article","created":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T08:46:27Z","timestamp":1736498787000},"page":"917-925","source":"Crossref","is-referenced-by-count":2,"title":["Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa"],"prefix":"10.1093","volume":"192","author":[{"given":"Pirunthan","family":"Pathmarajah","sequence":"first","affiliation":[{"name":"Department of Dermatology, Stanford University School of Medicine , Stanford, CA 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