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Extensive family genetic screening eventually revealed paternal gonadosomatic mosaicism.<\/jats:p>","DOI":"10.1002\/ccr3.6347","type":"journal-article","created":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T05:19:53Z","timestamp":1663219193000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene\u00a0from her asymptomatic father\u2014A peculiar pattern of X\u2010linked recessive inheritance"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9099-4720","authenticated-orcid":false,"given":"Toby Chun Hei","family":"Chan","sequence":"first","affiliation":[{"name":"Department of Pathology Queen Elizabeth Hospital  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0924-7352","authenticated-orcid":false,"given":"Hoi Ning","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Pathology Queen Elizabeth Hospital  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmine","family":"Chow","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Queen Elizabeth Hospital  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei Tik","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Pathology Queen Elizabeth Hospital  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sammy Pak Lam","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology Queen Elizabeth Hospital  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi Chung","family":"Shek","sequence":"additional","affiliation":[{"name":"Department of Pathology Queen Elizabeth Hospital  Hong Kong China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,14]]},"reference":[{"key":"e_1_2_15_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197410"},{"key":"e_1_2_15_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2009.11.014"},{"key":"e_1_2_15_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80989-1"},{"key":"e_1_2_15_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2015.04.003"},{"key":"e_1_2_15_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-020-1189-8"},{"key":"e_1_2_15_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-018-0022-x"},{"key":"e_1_2_15_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.003"},{"key":"e_1_2_15_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0877-3"},{"key":"e_1_2_15_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1254240"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6347","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.6347","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6347","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T03:39:56Z","timestamp":1692502796000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.6347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/ccr3.6347"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.6347","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"2022-01-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e6347"}}