{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T12:17:31Z","timestamp":1700655451824},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2012,5,15]],"date-time":"2012-05-15T00:00:00Z","timestamp":1337040000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Dermatol Res"],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1007\/s00403-012-1244-2","type":"journal-article","created":{"date-parts":[[2012,5,14]],"date-time":"2012-05-14T04:37:01Z","timestamp":1336970221000},"page":"679-681","source":"Crossref","is-referenced-by-count":6,"title":["A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities"],"prefix":"10.1007","volume":"304","author":[{"given":"Katalin","family":"Farkas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikoletta","family":"Nagy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes","family":"Kiny\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lajos","family":"Kem\u00e9ny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Sz\u00e9ll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,5,15]]},"reference":[{"key":"1244_CR1","first-page":"278","volume":"9","author":"G Argenziano","year":"1999","unstructured":"Argenziano G, Sammarco E, Rossi A et al (1999) Marie Unna hereditary hypothrichosis. Europ J Dermatol 9:278\u2013280","journal-title":"Europ J Dermatol"},{"key":"1244_CR2","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1365-2133.1979.tb05628.x","volume":"101","author":"B Bentley-Phillips","year":"1979","unstructured":"Bentley-Phillips B, Grace HJ (1979) Hereditary hypotrichosis: a previously undescribed syndrome. Br J Dermatol 101:331\u2013339","journal-title":"Br J Dermatol"},{"key":"1244_CR3","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jdermsci.2009.04.009","volume":"55","author":"LQ Cai","year":"2009","unstructured":"Cai LQ, Wang PG, Gao M et al (2009) A novel U2HR non-synonymous mutation in aChinese patient with Marie Unna Hereditary Hypotrichosis. J Dermatol Sci 55:125\u2013127","journal-title":"J Dermatol Sci"},{"key":"1244_CR4","doi-asserted-by":"crossref","first-page":"2628","DOI":"10.1002\/ajmg.a.33649","volume":"152A","author":"AT Mansur","year":"2010","unstructured":"Mansur AT, Elcioglu NH, Redler S et al (2010) Marie Unna hereditary hypothrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. Am J Med Genet 152A:2628\u20132633","journal-title":"Am J Med Genet"},{"key":"1244_CR5","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1111\/j.1600-0625.2009.01042.x","volume":"19","author":"Y Ramot","year":"2010","unstructured":"Ramot Y, Horev L, Smolovich I et al (2010) Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. Exp Dermatol 19:320\u2013322","journal-title":"Exp Dermatol"},{"key":"1244_CR6","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.jaad.2010.06.013","volume":"64","author":"S Redler","year":"2011","unstructured":"Redler S, Kruse R, Eigelshoven S et al (2011) Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation int he family from the original 1925 report. J Am Acad Dermatol 64:45\u201350","journal-title":"J Am Acad Dermatol"},{"key":"1244_CR7","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1111\/1523-1747.ep12293186","volume":"57","author":"LM Solomon","year":"1971","unstructured":"Solomon LM, Esterly NB, Medenica M (1971) Hereditary trichodysplasia: Marie Unna\u2019s hypothrichosis. J Invest Dermatol 57:389\u2013400","journal-title":"J Invest Dermatol"},{"key":"1244_CR8","first-page":"1167","volume":"81","author":"M Unna","year":"1925","unstructured":"Unna M (1925) \u00dcber Hypotrichosis congenita hereditaria. Derm Wschr 81:1167\u20131178","journal-title":"Derm Wschr"},{"key":"1244_CR9","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ng.276","volume":"41","author":"Y Wen","year":"2009","unstructured":"Wen Y, Liu Y, Xu Y et al (2009) Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet 41:228\u2013233","journal-title":"Nat Genet"}],"container-title":["Archives of Dermatological Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00403-012-1244-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00403-012-1244-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00403-012-1244-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T17:39:51Z","timestamp":1559065191000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00403-012-1244-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,15]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["1244"],"URL":"https:\/\/doi.org\/10.1007\/s00403-012-1244-2","relation":{},"ISSN":["0340-3696","1432-069X"],"issn-type":[{"value":"0340-3696","type":"print"},{"value":"1432-069X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,15]]}}}