{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:09:42Z","timestamp":1772168982389,"version":"3.50.1"},"update-to":[{"DOI":"10.12688\/f1000research.8380.1","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2016,7,5]],"date-time":"2016-07-05T00:00:00Z","timestamp":1467676800000}}],"reference-count":12,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2016,7,5]],"date-time":"2016-07-05T00:00:00Z","timestamp":1467676800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>\n                    Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB) is more severe. In the present study, we identify a novel p.G2254fs mutation in\n                    <ns4:italic>COL7A1<\/ns4:italic>\n                    gene causing a sporadic case of RDEB by whole exome sequencing (WES). Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.\n                  <\/ns4:p>","DOI":"10.12688\/f1000research.8380.2","type":"journal-article","created":{"date-parts":[[2016,7,5]],"date-time":"2016-07-05T10:18:41Z","timestamp":1467713921000},"page":"900","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa"],"prefix":"10.12688","volume":"5","author":[{"given":"Shamsudheen","family":"Karuthedath 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Dermatol."}],"container-title":["F1000Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/f1000research.com\/articles\/5-900\/v2\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/5-900\/v2\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/5-900\/v2\/iparadigms","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,12,5]],"date-time":"2018-12-05T12:46:30Z","timestamp":1544013990000},"score":1,"resource":{"primary":{"URL":"https:\/\/f1000research.com\/articles\/5-900\/v2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,5]]},"references-count":12,"URL":"https:\/\/doi.org\/10.12688\/f1000research.8380.2","relation":{"has-review":[{"id-type":"doi","id":"10.5256\/f1000research.9847.r14976","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.9847.r14976","asserted-by":"object"}]},"ISSN":["2046-1402"],"issn-type":[{"value":"2046-1402","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,5]]},"assertion":[{"value":"Indexed","URL":"https:\/\/f1000research.com\/articles\/5-900\/v2#article-reports","order":0,"name":"referee-status","label":"Referee status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.9847.r14976, Robert Sidbury, Dermatology Division, Seattle Children, Seattle, WA, USA, 13 Jul 2016, version 2, indexed","URL":"https:\/\/f1000research.com\/articles\/5-900\/v2#referee-response-14976","order":0,"name":"referee-response-14976","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.9013.r14364, Regina F\u00f6lster-Holst, Dermatologische Klinik, Universit\u00e4t Kiel, Kiel, Germany, 14 Jun 2016, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/5-900\/v1#referee-response-14364","order":1,"name":"referee-response-14364","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.9013.r14177, Mohamed Badawy Hassan Tawfik Abdel-Naser, Klinik f\u00fcr Dermatologie, Venerologie und Allergologie St\u00e4dtisches Klinikum Dessau, Dessau, Germany, 27 Jun 2016, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/5-900\/v1#referee-response-14177","order":2,"name":"referee-response-14177","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"Authors acknowledge funding from the Council of Scientific and Industrial Research (CSIR), India through Grant No. BSC0212 (Wellness Genomics Project) granted to SS and VS. Authors acknowledge support from the GUaRDIAN consortium. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":3,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}