{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T03:57:22Z","timestamp":1740110242365,"version":"3.37.3"},"reference-count":10,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["16ek0109067h0003","16ek0109151h0002"],"award-info":[{"award-number":["16ek0109067h0003","16ek0109151h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","jdsjournal.com","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.jdermsci.2017.12.010","type":"journal-article","created":{"date-parts":[[2017,12,18]],"date-time":"2017-12-18T21:39:49Z","timestamp":1513633189000},"page":"90-93","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B"],"prefix":"10.1016","volume":"90","author":[{"given":"Miho","family":"Mukai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harumi","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Umegaki-Arao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumiyo","family":"Yasuda-Sekiguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Isojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachiko","family":"Kitanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayuki","family":"Amagai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiharu","family":"Kubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2017.12.010_bib0005","doi-asserted-by":"crossref","first-page":"505","DOI":"10.2106\/00004623-196951030-00008","article-title":"Hereditary onycho-osteodysplasia (Nail-Patella syndrome): a report of nine kindreds","volume":"51","author":"Beals","year":"1969","journal-title":"J. Bone Joint Surg. Am."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0010","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/jmg.40.3.153","article-title":"Nail patella syndrome: a review of the phenotype aided by developmental biology","volume":"40","author":"Sweeney","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0015","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1529-8817.2005.00191.x","article-title":"Nail patella syndrome revisited: 50 years after linkage","volume":"69","author":"McIntosh","year":"2005","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0020","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1007\/s00467-002-0911-5","article-title":"Nail-patella syndrome. Overview on clinical and molecular findings","volume":"17","author":"Bongers","year":"2002","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0025","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng0598-51","article-title":"Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome","volume":"19","author":"Chen","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0030","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0598-47","article-title":"Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome","volume":"19","author":"Dreyer","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0035","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9","article-title":"Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients","volume":"14","author":"Clough","year":"1999","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0040","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1093\/hmg\/9.7.1067","article-title":"LMX1B transactivation and expression in nail-patella syndrome","volume":"9","author":"Dreyer","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0045","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1093\/ndt\/gft359","article-title":"LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy","volume":"29","author":"Isojima","year":"2014","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.jdermsci.2017.12.010_bib0050","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1111\/1346-8138.12829","article-title":"Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency","volume":"42","author":"Sakiyama","year":"2015","journal-title":"J. Dermatol."}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181117310149?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181117310149?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,9]],"date-time":"2019-08-09T07:40:26Z","timestamp":1565336426000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181117310149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["S0923181117310149"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2017.12.010","relation":{},"ISSN":["0923-1811"],"issn-type":[{"type":"print","value":"0923-1811"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2017.12.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}