{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T06:24:32Z","timestamp":1744007072779},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,12,30]],"date-time":"2014-12-30T00:00:00Z","timestamp":1419897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2016,2]]},"abstract":"Abstract<\/jats:title>Mal de M<\/jats:styled-content>eleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B<\/jats:styled-content> (SLURP<\/jats:styled-content>1<\/jats:italic>) gene, with possible founder effects in the M<\/jats:styled-content>editerranean and A<\/jats:styled-content>driatic regions. We report an affected individual from I<\/jats:styled-content>ndonesia without known consanguinity in the family, suggesting that SLURP<\/jats:styled-content>1<\/jats:italic> gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic counselling.<\/jats:p>","DOI":"10.1111\/ajd.12239","type":"journal-article","created":{"date-parts":[[2014,12,31]],"date-time":"2014-12-31T05:05:20Z","timestamp":1420002320000},"update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mal de M<\/scp>eleda in I<\/scp>ndonesia: Mutations in the SLURP<\/scp>1<\/i> gene appear to be ubiquitous"],"prefix":"10.1111","volume":"57","author":[{"given":"Jessica A","family":"Taylor","sequence":"first","affiliation":[{"name":"Genetic Medicine Royal Melbourne Hospital Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Bondavalli","sequence":"additional","affiliation":[{"name":"Genetic Medicine Royal Melbourne Hospital Melbourne Victoria Australia"},{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health Section of Medical Genetics University of Genoa Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mastura","family":"Monif","sequence":"additional","affiliation":[{"name":"Genetic Medicine Royal Melbourne Hospital Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee Mei","family":"Yap","sequence":"additional","affiliation":[{"name":"St Vincent's Hospital Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Winship","sequence":"additional","affiliation":[{"name":"Genetic Medicine Royal Melbourne Hospital Melbourne Victoria Australia"},{"name":"Department of Medicine Royal Melbourne Hospital University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,12,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/206803"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000051695"},{"key":"e_1_2_5_4_1","first-page":"88","article-title":"[Vererbungsverhaeltnisse bei der sog. Krankheit von Mljet] (\u2018Mal de Meleda\u2019)","volume":"19","author":"Bosnjakovic S","year":"1938","journal-title":"Acta Derm. Venerol."},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01977221"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.8.875"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200254"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.120721"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg320"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10059.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.009"}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fajd.12239","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fajd.12239","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.12239","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T18:25:14Z","timestamp":1694283914000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajd.12239"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,30]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1111\/ajd.12239"],"URL":"https:\/\/doi.org\/10.1111\/ajd.12239","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"value":"0004-8380","type":"print"},{"value":"1440-0960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,30]]},"assertion":[{"value":"2014-05-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-07-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-12-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}