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This report extends the genotype and clinical phenotype of HIST1H1E\u2010associated Rahman syndrome.<\/jats:p>","DOI":"10.1002\/ccr3.5370","type":"journal-article","created":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T07:48:38Z","timestamp":1644306518000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Exome sequencing identified a novel HIST1H1E heterozygous protein\u2010truncating variant in a 6\u2010month\u2010old male patient with Rahman syndrome: A case report"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7653-4189","authenticated-orcid":false,"given":"Subba Rao","family":"Indugula","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children\u2019s Hospital Medical Center Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia Saenz","family":"Ayala","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children\u2019s Hospital Medical Center Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Vetrini","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Undiagnosed Rare Disease Clinic Indiana University School of Medicine Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyce","family":"Belonis","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children\u2019s Hospital Medical Center Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children\u2019s Hospital Medical Center Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt700"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61321"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.03.010"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32631"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148\u2010019\u20100804\u20100"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.07.007"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38616"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.15252\/embr.201540749"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.5370","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.5370","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.5370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T13:11:26Z","timestamp":1693141886000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.5370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1002\/ccr3.5370"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.5370","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2]]},"assertion":[{"value":"2021-10-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e05370"}}