{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T01:44:52Z","timestamp":1771983892740,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T00:00:00Z","timestamp":1724716800000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010746","name":"Suomen Ihotautil\u00e4\u00e4k\u00e4riyhdistys","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010746","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000\u20132020 and what kind of gene variants of congenital ichthyosis have been found.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study cohort of this register\u2010based research consisted of a total of 88 patients, whose diagnostic testing was conducted, and ichthyosis diagnoses set at the Department of Dermatology and the Department of Clinical Genetics at Tampere University Hospital during the years 2000\u20132020.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Diagnosis of ichthyosis was confirmed with genetic testing in 33 cases, and with conventional diagnostic methods, such as clinical findings, skin biopsy and family history of ichthyoses, in 55 cases. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>When genetic testing became available, it was offered primarily to patients with severe forms of ichthyosis. During the study period next\u2010generation sequencing became the genetic testing method of choice providing new opportunities in diagnostics.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70000","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T12:29:03Z","timestamp":1724761743000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic testing and new variants in diagnosis of congenital ichthyoses"],"prefix":"10.1002","volume":"12","author":[{"given":"Milja","family":"Salo","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Health Technology Tampere University  Tampere Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1704-5785","authenticated-orcid":false,"given":"Teija","family":"Kimpim\u00e4ki","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Technology Tampere University  Tampere Finland"},{"name":"Department of Dermatology Tampere University Hospital  Tampere Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heini","family":"Huhtala","sequence":"additional","affiliation":[{"name":"Faculty of Social Sciences Tampere University  Tampere Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanja","family":"Saarela","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Technology Tampere University  Tampere Finland"},{"name":"Department of Clinical Genetics Kuopio University Hospital  Kuopio Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09339.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13704"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20109\u20101"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3432"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.12.020"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2015.5827"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.07.033"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.2165\/11311070-000000000-00000"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.16826"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.18769"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.121"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13243"},{"key":"e_1_2_10_16_1","first-page":"E374","article-title":"A review of quality of life of patients suffering from ichthyosis","volume":"61","author":"Troiano G.","year":"2020","journal-title":"Journal of Preventive Medicine and Hygiene"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3431"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40257-017-0313-x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3433"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13284"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70000","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T07:38:19Z","timestamp":1733470699000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70000"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/mgg3.70000"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70000","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8]]},"assertion":[{"value":"2023-12-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70000"}}