{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:19:32Z","timestamp":1762161572714,"version":"3.40.5"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T00:00:00Z","timestamp":1597017600000},"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":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>H syndrome (OMIM 602782) is a recently defined autosomal recessive genodermatosis. Cutaneous findings of H syndrome include hyperpigmentation, hypertrichosis, and induration, while hearing loss, heart anomalies, hepatomegaly, hypogonadism, hyperglycemia (diabetes mellitus), low height (short stature), hallux valgus (flexion contractures), and hematological abnormalities are the extracutaneous abnormalities. We report a novel homozygous missense mutation, c.416T\u00a0&gt;\u00a0C p.(Leu139Pro), in the <jats:italic>SLC29A3<\/jats:italic> (NM_001174098.1) gene in two sisters with H syndrome presenting with different phenotypes.<\/jats:p>","DOI":"10.1111\/pde.14322","type":"journal-article","created":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T12:40:35Z","timestamp":1597063235000},"page":"1135-1138","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["H syndrome with a novel homozygous <i>SLC29A3<\/i> mutation in two sisters"],"prefix":"10.1111","volume":"37","author":[{"given":"Damla","family":"Demir","sequence":"first","affiliation":[{"name":"Department of Dermatology Health Science University \u00dcmraniye Training and Research Hospital  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6634-2810","authenticated-orcid":false,"given":"Ezgi","family":"Akta\u015f Karabay","sequence":"additional","affiliation":[{"name":"Department of Dermatology Bah\u00e7e\u015fehir University Faculty of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bet\u00fcl","family":"S\u00f6zeri","sequence":"additional","affiliation":[{"name":"Division of Pediatric Rheumatology Health Science University \u00dcmraniye Training and Research Hospital  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fat\u0131ma","family":"G\u00fcrsoy","sequence":"additional","affiliation":[{"name":"Department of Pathology Health Science University \u00dcmraniye Training and Research Hospital  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem","family":"Akg\u00fcn Do\u011fan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics Health Science University \u00dcmraniye Training and Research Hospital  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eylem","family":"Topakta\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Health Science University \u00dcmraniye Training and Research Hospital  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130lkin","family":"Zindanc\u0131","sequence":"additional","affiliation":[{"name":"Department of Dermatology Health Science University \u00dcmraniye Training and Research Hospital  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.03.021"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.09.019"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.013"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3181b28572"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.09.011"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.109199"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12969-017-0204-y"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0879-7"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijd.IJD_264_17"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.14322","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14322","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14322","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T19:40:55Z","timestamp":1693338055000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,10]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1111\/pde.14322"],"URL":"https:\/\/doi.org\/10.1111\/pde.14322","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2020,8,10]]},"assertion":[{"value":"2020-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}