{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T09:32:45Z","timestamp":1740130365738,"version":"3.37.3"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T00:00:00Z","timestamp":1687305600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["17K16239"],"award-info":[{"award-number":["17K16239"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Retinoblastoma manifests as ocular malignancy due to mutations in the RB1 gene. A 17-month-old girl with bilateral retinoblastoma having no family history was admitted to our hospital. The right eye was enucleated but the other was preserved with systemic chemotherapy and topical treatment. The patient has been tumor-free for over 7\u00a0years since diagnosis. All exons of RB1 were sequenced and a novel 1-base pair deletion (NM_000321.2:c.2409del, p.Asn803Lysfs*7) was detected.<\/jats:p>","DOI":"10.1093\/jjco\/hyad064","type":"journal-article","created":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T02:49:40Z","timestamp":1687488580000},"page":"863-865","source":"Crossref","is-referenced-by-count":0,"title":["A novel de-novo <i>RB1<\/i> mutation identified in a patient with bilateral retinoblastoma"],"prefix":"10.1093","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1290-3501","authenticated-orcid":false,"given":"Hiroko","family":"Fukushima","sequence":"first","affiliation":[{"name":"University of Tsukuba Department of Child Health, Institution of Medicine, , Ibaraki, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoko","family":"Suzuki","sequence":"additional","affiliation":[{"name":"University of Tsukuba Department of Child Health, Institution of Medicine, , Ibaraki, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Hiraoka","sequence":"additional","affiliation":[{"name":"University of Tsukuba Department of Ophthalmology, Institution of Medicine, , Ibaraki, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigenobu","family":"Suzuki","sequence":"additional","affiliation":[{"name":"National Cancer Center Hospital Department of Ophthalmic Oncology, , Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emiko","family":"Noguchi","sequence":"additional","affiliation":[{"name":"University of Tsukuba Department of Medical Genetics, Institution of Medicine, , Ibaraki, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetoshi","family":"Takada","sequence":"additional","affiliation":[{"name":"University of Tsukuba Department of Child Health, Institution of Medicine, , Ibaraki, 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