{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:24:15Z","timestamp":1759335855579},"reference-count":3,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,3,17]],"date-time":"2015-03-17T00:00:00Z","timestamp":1426550400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acrodermatitis enteropathica (<jats:styled-content style=\"fixed-case\">AE<\/jats:styled-content>) is a rare disease that results from a defective gene, <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>39A4<\/jats:italic>, and is characterized by dermatitis, alopecia, and diarrhea. We report a case of <jats:styled-content style=\"fixed-case\">AE<\/jats:styled-content> presenting with only periorificial and acral dermatitis in which genetic testing revealed two novel compound heterozygous missense mutations for <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>39A4<\/jats:italic>. This case demonstrates that not all <jats:styled-content style=\"fixed-case\">AE<\/jats:styled-content> mutations alter zinc transporters in the same manner and highlights the phenotypic variability of <jats:styled-content style=\"fixed-case\">AE<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/pde.12555","type":"journal-article","created":{"date-parts":[[2015,3,17]],"date-time":"2015-03-17T11:52:46Z","timestamp":1426593166000},"source":"Crossref","is-referenced-by-count":15,"title":["Acrodermatitis Enteropathica: A Novel <i><scp>SLC<\/scp>39A4<\/i> Gene Mutation in a Patient with Normal Zinc Levels"],"prefix":"10.1111","volume":"32","author":[{"given":"Ver\u00f3nica","family":"Garza\u2010Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Dermatology Department Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d UANL Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"de la Fuente\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"Dermatology Department Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d UANL Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Liy\u2010Wong","sequence":"additional","affiliation":[{"name":"Dermatology Department Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d UANL Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[{"name":"CHU Nantes P\u00f4le de Biologie Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes Cedex 1 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9bastien","family":"Schmitt","sequence":"additional","affiliation":[{"name":"CHU Nantes P\u00f4le de Biologie Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes Cedex 1 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ijaz S.","family":"Jamall","sequence":"additional","affiliation":[{"name":"Risk\u2010Based Decisions, Inc. Sacramento California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Ocampo\u2010Candiani","sequence":"additional","affiliation":[{"name":"Dermatology Department Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d UANL Monterrey Nuevo Le\u00f3n M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,17]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1385\/BTER:114:1:93"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh049"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2010.04566.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12555","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12555","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T13:05:48Z","timestamp":1696165548000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,17]]},"references-count":3,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1111\/pde.12555"],"URL":"https:\/\/doi.org\/10.1111\/pde.12555","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,17]]}}}