{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T10:10:14Z","timestamp":1791022214686,"version":"4.1.0"},"reference-count":9,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1016\/j.jdermsci.2011.12.010","type":"journal-article","created":{"date-parts":[[2011,12,24]],"date-time":"2011-12-24T08:51:06Z","timestamp":1324716666000},"page":"78-79","source":"Crossref","is-referenced-by-count":5,"title":["Molecular characterization of two novel KIT mutations in patients with piebaldism"],"prefix":"10.1016","volume":"66","author":[{"given":"Bartosz","family":"Wasag","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Chmara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2011.12.010_bib0005","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1111\/j.1600-0625.2009.00896.x","article-title":"A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes","volume":"18","author":"Dessinioti","year":"2009","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.jdermsci.2011.12.010_bib0010","first-page":"58","article-title":"Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism","volume":"56","author":"Ezoe","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jdermsci.2011.12.010_bib0015","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.prp.2005.01.005","article-title":"Immunohistochemical profile and c-kit mutations in gastrointestinal stromal tumors","volume":"201","author":"Romagnoli","year":"2005","journal-title":"Pathol Res Pract"},{"key":"10.1016\/j.jdermsci.2011.12.010_bib0020","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1111\/j.1365-2133.2006.07560.x","article-title":"New mutations of KIT gene in two Chinese patients with piebaldism","volume":"155","author":"Lin","year":"2006","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jdermsci.2011.12.010_bib0025","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1067\/mjd.2001.112221","article-title":"A novel KIT mutation results in piebaldism with progressive depigmentation","volume":"44","author":"Richards","year":"2001","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jdermsci.2011.12.010_bib0030","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1046\/j.1365-2141.1999.01449.x","article-title":"c-kit Proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia","volume":"105","author":"Gari","year":"1999","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jdermsci.2011.12.010_bib0035","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1053\/j.gastro.2005.06.060","article-title":"Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis","volume":"129","author":"Hartmann","year":"2005","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jdermsci.2011.12.010_bib0040","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/j.exphem.2011.05.009","article-title":"Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis","volume":"39","author":"Wasag","year":"2011","journal-title":"Exp Hematol"},{"key":"10.1016\/j.jdermsci.2011.12.010_bib0045","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1182\/blood-2009-06-226027","article-title":"Pediatric mastocytosis-associated KIT extracellular domain mutations exhibit different functional and signaling properties compared with KIT-phosphotransferase domain mutations","volume":"116","author":"Yang","year":"2010","journal-title":"Blood"}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181111003604?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181111003604?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,27]],"date-time":"2018-11-27T14:27:00Z","timestamp":1543328820000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181111003604"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["S0923181111003604"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2011.12.010","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2012,4]]}}}