{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:07:58Z","timestamp":1777579678721,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,8,3]],"date-time":"2018-08-03T00:00:00Z","timestamp":1533254400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,8,3]],"date-time":"2018-08-03T00:00:00Z","timestamp":1533254400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"debra International (Uitto2)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1002\/humu.23592","type":"journal-article","created":{"date-parts":[[2018,7,17]],"date-time":"2018-07-17T18:13:01Z","timestamp":1531851181000},"page":"1349-1354","source":"Crossref","is-referenced-by-count":31,"title":["Next generation sequencing identifies double homozygous mutations in two distinct genes (<i>EXPH5<\/i>\n and <i>COL17A1<\/i>\n) in a patient with concomitant simplex and junctional epidermolysis bullosa"],"prefix":"10.1155","volume":"39","author":[{"given":"Hassan","family":"Vahidnezhad","sequence":"first","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA USA"},{"name":"Department of Molecular Medicine; Biotechnology Research Center; Pasteur Institute of Iran; Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA USA"},{"name":"Department of Medical Genetics; School of Medicine; Tehran University of Medical Sciences; Tehran Iran"},{"name":"Genetics, Genomics and Cancer Biology PhD Program; Thomas Jefferson University; Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amir Hossein","family":"Saeidian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA USA"},{"name":"Genetics, Genomics and Cancer Biology PhD Program; Thomas Jefferson University; Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Touati","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA USA"},{"name":"Drexel University College of Medicine; Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soheila","family":"Sotoudeh","sequence":"additional","affiliation":[{"name":"Department of Dermatology; Children's Medical Center; Center of Excellence; Tehran University of Medical Sciences; Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Jazayeri","sequence":"additional","affiliation":[{"name":"Department of Information Science; College of Computing and Informatics; Drexel University; Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alyson","family":"Guy","sequence":"additional","affiliation":[{"name":"Viapath, St Thomas\u2019 Hospital; London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia A.","family":"Lovell","sequence":"additional","affiliation":[{"name":"Viapath, St Thomas\u2019 Hospital; London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Liu","sequence":"additional","affiliation":[{"name":"Viapath, St Thomas\u2019 Hospital; London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology & Genetics Center; Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[{"name":"Institute of Dermatology; King's College London, Guy's Hospital; London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirous","family":"Zeinali","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine; Biotechnology Research Center; Pasteur Institute of Iran; Tehran Iran"},{"name":"Kawsar Human Genetics Research Center; Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4639-807X","authenticated-orcid":false,"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,3]]},"reference":[{"issue":"10","key":"10.1002\/humu.23592-BIB0001|humu23592-cit-0001","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1515\/jpem-2016-0096","article-title":"Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: Emphasizing the role of consanguinity","volume":"29","author":"Abiri","year":"2016","journal-title":"Journal of Pediatric Endocrinology and Metabolism"},{"issue":"6","key":"10.1002\/humu.23592-BIB0002|humu23592-cit-0002","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.jaad.2014.01.903","article-title":"Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification","volume":"70","author":"Fine","year":"2014","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"6","key":"10.1002\/humu.23592-BIB0003|humu23592-cit-0003","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1086\/302672","article-title":"Digenic junctional epidermolysis bullosa: Mutations in COL17A1 and LAMB3 genes","volume":"65","author":"Floeth","year":"1999","journal-title":"American Journal of Human Genetics"},{"issue":"5","key":"10.1002\/humu.23592-BIB0004|humu23592-cit-0004","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1016\/j.jid.2016.12.015","article-title":"Congenital anonychia and uncombable hair syndrome: Coinheritance of homozygous mutations in RSPO4 and PADI3","volume":"137","author":"Hsu","year":"2017","journal-title":"Journal of Investigative Dermatology"},{"issue":"1","key":"10.1002\/humu.23592-BIB0005|humu23592-cit-0005","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1111\/bjd.15053","article-title":"Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14","volume":"177","author":"Kim","year":"2017","journal-title":"British Journal of Dermatology"},{"issue":"8","key":"10.1002\/humu.23592-BIB0006|humu23592-cit-0006","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1007\/s00439-017-1821-8","article-title":"The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes","volume":"136","author":"Monies","year":"2017","journal-title":"Human Genetics"},{"key":"10.1002\/humu.23592-BIB0007|humu23592-cit-0007","doi-asserted-by":"crossref","first-page":"2852","DOI":"10.1038\/jid.2012.229","article-title":"Digenic inheritance in epidermolysis bullosa simplex","volume":"132","author":"Padalon-Brauch","year":"2012","journal-title":"Journal of Investigative Dermatology"},{"issue":"4","key":"10.1002\/humu.23592-BIB0008|humu23592-cit-0008","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1038\/gim.2017.128","article-title":"Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases","volume":"20","author":"Pena","year":"2018","journal-title":"Genetics in Medicine"},{"issue":"1","key":"10.1002\/humu.23592-BIB0009|humu23592-cit-0009","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of disease phenotypes resulting from multilocus genomic variation","volume":"376","author":"Posey","year":"2017","journal-title":"The New England Journal of Medicine"},{"issue":"1","key":"10.1002\/humu.23592-BIB0010|humu23592-cit-0010","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/bjd.13190","article-title":"Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory","volume":"172","author":"Takeichi","year":"2015","journal-title":"British Journal of Dermatology"},{"issue":"2","key":"10.1002\/humu.23592-BIB0011|humu23592-cit-0011","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/ejhg.2016.146","article-title":"Clinical exome sequencing: Results from 2819 samples reflecting 1000 families","volume":"25","author":"Trujillano","year":"2017","journal-title":"European Journal of Human Genetics"},{"key":"10.1002\/humu.23592-BIB0012|humu23592-cit-0012","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.matbio.2016.07.009","article-title":"Molecular pathology of the basement membrane zone in heritable blistering diseases: The paradigm of epidermolysis bullosa","volume":"57","author":"Uitto","year":"2017","journal-title":"Matrix Biology"},{"key":"10.1002\/humu.23592-BIB0013|humu23592-cit-0013","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.matbio.2017.11.003","article-title":"Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy","volume":"66","author":"Vahidnezhad","year":"2018","journal-title":"Matrix Biology"},{"issue":"9","key":"10.1002\/humu.23592-BIB0014|humu23592-cit-0014","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1016\/j.jid.2016.05.106","article-title":"KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semidominant inheritance in a multiplex family","volume":"136","author":"Vahidnezhad","year":"2016","journal-title":"Journal of Investigative Dermatology"},{"key":"10.1002\/humu.23592-BIB0015|humu23592-cit-0015","doi-asserted-by":"crossref","first-page":"2649","DOI":"10.1016\/j.jid.2017.07.830","article-title":"Multigene next generation sequencing panel identifies pathogenic variants in patients with unknown subtype of epidermolysis bullosa: Subclassification with prognostic implications","volume":"137","author":"Vahidnezhad","year":"2017","journal-title":"Journal of Investigative Dermatology"},{"issue":"3","key":"10.1002\/humu.23592-BIB0016|humu23592-cit-0016","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1016\/j.jid.2016.10.023","article-title":"Dystrophic epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages","volume":"137","author":"Vahidnezhad","year":"2017","journal-title":"Journal of Investigative Dermatology"},{"issue":"2","key":"10.1002\/humu.23592-BIB0017|humu23592-cit-0017","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1111\/bjd.12624","article-title":"Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex","volume":"170","author":"Wertheim-Tysarowska","year":"2014","journal-title":"British Journal of Dermatology"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23592","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.23592\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:44Z","timestamp":1672332944000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,3]]},"references-count":17,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2018,10]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23592","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,8,3]]}}}