{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T15:02:34Z","timestamp":1726412554717},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T00:00:00Z","timestamp":1560384000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T00:00:00Z","timestamp":1560384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hautarzt"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1007\/s00105-019-4440-6","type":"journal-article","created":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T08:02:22Z","timestamp":1560412942000},"page":"514-519","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Haaranomalien bei syndromalen Erkrankungen","Hair anomalies in syndromic disorders"],"prefix":"10.1007","volume":"70","author":[{"given":"J.","family":"Frank","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. C.","family":"Betz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,6,13]]},"reference":[{"key":"4440_CR1","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1007\/s00105-013-2578-1","volume":"64","author":"J Frank","year":"2013","unstructured":"Frank J, Poblete-Gutierrez P, Giehl K (2013) Genetic hair diseases. An update. Hautarzt 64:830\u2013842","journal-title":"Hautarzt"},{"key":"4440_CR2","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1007\/s00105-003-0564-8","volume":"54","author":"T Wiederholt","year":"2003","unstructured":"Wiederholt T, Poblete-Gutierrez P, Frank J (2003) Genetically induced hair diseases. Hautarzt 54:723\u2013731","journal-title":"Hautarzt"},{"key":"4440_CR3","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1038\/jid.2011.408","volume":"132","author":"RC Betz","year":"2012","unstructured":"Betz RC, Cabral RM, Christiano AM, Sprecher E (2012) Unveiling the roots of monogenic genodermatoses: genotrichoses as a\u00a0paradigm. J\u00a0Invest Dermatol 132:906\u2013914","journal-title":"J Invest Dermatol"},{"key":"4440_CR4","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1002\/ajmg.c.31411","volume":"166C","author":"SS Vergano","year":"2014","unstructured":"Vergano SS, Deardorff MA (2014) Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet 166C:252\u2013256","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"4440_CR5","doi-asserted-by":"publisher","first-page":"1375","DOI":"10.1001\/archderm.1980.01640360049017","volume":"116","author":"VH Price","year":"1980","unstructured":"Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy: sulfur-deficient brittle hair as a\u00a0marker for a\u00a0neuroectodermal symptom complex. Arch Dermatol 116:1375\u20131384","journal-title":"Arch Dermatol"},{"key":"4440_CR6","first-page":"188","volume":"296","author":"JO Sass","year":"2004","unstructured":"Sass JO, Skladal D, Zelger B, Romani N, Utermann B (2004) Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid. Arch Dermatol Res 296:188\u2013191","journal-title":"Arch Dermatol Res"},{"key":"4440_CR7","doi-asserted-by":"publisher","first-page":"2020","DOI":"10.1002\/ajmg.a.32902","volume":"149A","author":"F Morice-Picard","year":"2009","unstructured":"Morice-Picard F, Cario-Andre M, Rezvani H, Lacombe D, Sarasin A, Taieb A (2009) New clinico-genetic classification of trichothiodystrophy. Am J Med Genet\u00a0A 149A:2020\u20132030","journal-title":"Am J Med Genet A"},{"key":"4440_CR8","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1016\/S0190-9622(98)70317-2","volume":"39","author":"L Carvajal-Huerta","year":"1998","unstructured":"Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J\u00a0Am Acad Dermatol 39:418\u2013421","journal-title":"J Am Acad Dermatol"},{"key":"4440_CR9","doi-asserted-by":"publisher","first-page":"2761","DOI":"10.1093\/hmg\/9.18.2761","volume":"9","author":"EE Norgett","year":"2000","unstructured":"Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N et al (2000) Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9:2761\u20132766","journal-title":"Hum Mol Genet"},{"key":"4440_CR10","doi-asserted-by":"publisher","first-page":"2119","DOI":"10.1016\/S0140-6736(00)02379-5","volume":"355","author":"G McKoy","year":"2000","unstructured":"McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M et\u00a0al (2000) Identification of a\u00a0deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355:2119\u20132124","journal-title":"Lancet"},{"key":"4440_CR11","first-page":"969","volume":"14","author":"I Tantcheva-Poor","year":"2016","unstructured":"Tantcheva-Poor I, Oji V, Has C (2016) Ein mehrstufiger Algorithmus zur Diagnose seltener Genodermatosen. J\u00a0Dtsch Dermatol Ges 14:969\u2013987","journal-title":"J Dtsch Dermatol Ges"},{"key":"4440_CR12","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1016\/j.jaad.2014.01.903","volume":"70","author":"JD Fine","year":"2014","unstructured":"Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A et al (2014) Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J\u00a0Am Acad Dermatol 70:1103\u20131126","journal-title":"J Am Acad Dermatol"},{"key":"4440_CR13","doi-asserted-by":"publisher","first-page":"1067","DOI":"10.1007\/s00105-006-1233-5","volume":"57","author":"P Poblete-Guti\u00e9rrez","year":"2006","unstructured":"Poblete-Guti\u00e9rrez P, Burgdorf WHC, Has C et al (2006) Hautarzt 57:1067\u20131082","journal-title":"Hautarzt"}],"container-title":["Der Hautarzt"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00105-019-4440-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00105-019-4440-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00105-019-4440-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,11]],"date-time":"2020-06-11T19:30:29Z","timestamp":1591903829000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00105-019-4440-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,13]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["4440"],"URL":"https:\/\/doi.org\/10.1007\/s00105-019-4440-6","relation":{},"ISSN":["0017-8470","1432-1173"],"issn-type":[{"type":"print","value":"0017-8470"},{"type":"electronic","value":"1432-1173"}],"subject":[],"published":{"date-parts":[[2019,6,13]]},"assertion":[{"value":"13 June 2019","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"value":"J.\u00a0Frank erkl\u00e4rt, dass er sich bei der Erstellung des Beitrages nicht von wirtschaftlichen Interessen leiten lie\u00df. Er legt folgende m\u00f6gliche Interessenkonflikte offen: Er hat von den Firmen Genzyme und Shire Vortragshonorare und eine finanzielle Unterst\u00fctzung f\u00fcr den 2.\u00a0Weltkongresses f\u00fcr Genodermatologie im Jahr 2011 in Maastricht, Niederlande, erhalten. Er hat von den Firmen Roche, Bristol-Myers Squibb, Novartis, MSD und Orphan Europe Germany GmbH Vortragshonorare und finanzielle Unterst\u00fctzung zur Durchf\u00fchrung von Fortbildungsveranstaltungen erhalten. Dar\u00fcber hinaus hat er von der Firma Clinuvel eine Reisekostenunterst\u00fctzung zur Teilnahme am 23.\u00a0Weltkongress f\u00fcr Dermatologie in Vancouver, Kanada, erhalten und war als Studienleiter an 2 klinischen Studien der Phase\u00a0II und III der Firma Clinuvel beteiligt. Ferner hat er f\u00fcr die Organisation und Durchf\u00fchrung des Weltkongresses f\u00fcr Porphyrie-Erkrankungen 2015 (International Congress on Porphyrins and Porphyrias 2015) eine finanzielle Unterst\u00fctzung von den Firmen Alnylam Pharmaceuticals, Orphan Europe, Clinuvel Pharmaceuticals, La Roche-Posay und Lilly Deutschland GmbH erhalten. R.C.\u00a0Betz gibt an, dass kein Interessenkonflikt besteht.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien. F\u00fcr Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts, \u00fcber die Patienten zu identifizieren sind, liegt von ihnen und\/oder ihren gesetzlichen Vertretern eine schriftliche Einwilligung vor.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}