{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:27:16Z","timestamp":1759336036377},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,11,15]],"date-time":"2011-11-15T00:00:00Z","timestamp":1321315200000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> Acrodermatitis enteropathica (AE) is a rare autosomal\u2010recessive disorder characterized by dermatitis, alopecia, diarrhea, and retardation of growth and development. AE maps to 8q24.3 and is associated with mutations in the intestinal zinc transporter ZIP4 encoded by the gene <jats:italic>SLC39A4<\/jats:italic>. We describe a novel homozygous mutation, 1191insC, in <jats:italic>SLC39A4<\/jats:italic> in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone. Genetic testing for this founder mutation can be easily performed for this treatable disorder.<\/jats:p>","DOI":"10.1111\/j.1525-1470.2011.01637.x","type":"journal-article","created":{"date-parts":[[2011,11,15]],"date-time":"2011-11-15T18:17:20Z","timestamp":1321381040000},"page":"697-700","source":"Crossref","is-referenced-by-count":12,"title":["Novel <i>SLC39A4<\/i> Mutation in Acrodermatitis Enteropathica"],"prefix":"10.1111","volume":"28","author":[{"given":"Alexandra","family":"Coromilas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather A.","family":"Brandling\u2010Bennett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly D.","family":"Morel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,11,15]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100539"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/319514"},{"key":"e_1_2_5_4_2","first-page":"327","article-title":"Zinc deficiency in acrodermatitis enteropathica: multiple dietary intolerance treated with synthetic diet","volume":"66","author":"Barnes PM","year":"1973","journal-title":"Proc R Soc Med"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e328335107f"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng913"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/341125"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M310799200"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh049"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm088"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00963-08"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.2008.00981.x"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00803.x"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20988"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1525-1470.2011.01637.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1525-1470.2011.01637.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/j.1525-1470.2011.01637.x","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1525-1470.2011.01637.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T06:34:53Z","timestamp":1693290893000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1525-1470.2011.01637.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["10.1111\/j.1525-1470.2011.01637.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1525-1470.2011.01637.x","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}