{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:53:21Z","timestamp":1747187601688,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,22]],"date-time":"2019-12-22T00:00:00Z","timestamp":1576972800000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>H syndrome (OMIM 6027820) is a novel form of histiocytosis affecting multiple organs with peculiar cutaneous manifestations. It is an autosomal recessive genodermatosis caused by pathogenic mutations in <jats:italic>SLC29A3<\/jats:italic> that encodes the human equilibrative nucleoside transporter, hENT3. The cutaneous manifestations can mimic other sclerodermoid conditions. We present a 15\u2010year\u2010old boy diagnosed with H syndrome with typical clinical features and homozygosity for a novel pathogenic mutation.<\/jats:p>","DOI":"10.1111\/pde.14075","type":"journal-article","created":{"date-parts":[[2019,12,23]],"date-time":"2019-12-23T06:58:40Z","timestamp":1577084320000},"page":"333-336","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Homozygosity for a novel large deletion in <i>SLC29A3<\/i> in a patient with H syndrome"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3824-9800","authenticated-orcid":false,"given":"Sukesh Gautam","family":"Shankar","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology Sri Ramachandra Institute of Higher Education and Research (SRIHER) Porur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudha","family":"Rangarajan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology Sri Ramachandra Institute of Higher Education and Research (SRIHER) Porur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anuradha","family":"Priyadarshini","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology Sri Ramachandra Institute of Higher Education and Research (SRIHER) Porur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adikrishnan","family":"Swaminathan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology Sri Ramachandra Institute of Higher Education and Research (SRIHER) Porur India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murugan","family":"Sundaram","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology Sri Ramachandra Institute of Higher Education and Research (SRIHER) Porur India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.013"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.4103\/idoj.IDOJ_187_18"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2145"},{"key":"e_1_2_4_5_1","first-page":"e2763","article-title":"The H syndrome: a genodermatosis","volume":"10","author":"Bhatti S","year":"2018","journal-title":"Cureus"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.109199"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12085"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2014.886272"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09653.x"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.09.019"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12969-017-0204-y"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-2255"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-3148"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.14075","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14075","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14075","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14075","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T15:00:47Z","timestamp":1694012447000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,22]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1111\/pde.14075"],"URL":"https:\/\/doi.org\/10.1111\/pde.14075","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2019,12,22]]},"assertion":[{"value":"2019-12-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}