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Mosaic NF1 often presents with a milder phenotype and reduced transmission risk, complicating clinical diagnosis and genetic consulting. Conventional blood-based genetic testing may fail to detect the pathogenic variants in mosaic cases, necessitating additional analysis using tumour-derived DNA. We present five such cases and suggest a comprehensive diagnostic workflow focusing on tumour-based analysis for mosaic cases.<\/jats:p>","DOI":"10.1136\/jmg-2024-110580","type":"journal-article","created":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T02:50:34Z","timestamp":1743043834000},"page":"405-408","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1"],"prefix":"10.1136","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5463-0971","authenticated-orcid":false,"given":"Tabea Isabelle","family":"Hartung","sequence":"first","affiliation":[{"name":"Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9919-4551","authenticated-orcid":false,"given":"Lan","family":"Kluwe","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"},{"name":"Department of Oral and Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Said Chosro","family":"Farschtschi","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,3,26]]},"reference":[{"key":"2025100521513964000_62.6.405.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70063-8"},{"key":"2025100521513964000_62.6.405.2","doi-asserted-by":"publisher","DOI":"10.3238\/arztebl.2020.0354"},{"key":"2025100521513964000_62.6.405.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0293-122"},{"key":"2025100521513964000_62.6.405.4","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01170-5"},{"key":"2025100521513964000_62.6.405.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2015.03.013"},{"key":"2025100521513964000_62.6.405.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.109"},{"key":"2025100521513964000_62.6.405.7","doi-asserted-by":"publisher","DOI":"10.1086\/423624"},{"key":"2025100521513964000_62.6.405.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.059329"},{"key":"2025100521513964000_62.6.405.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460217"},{"key":"2025100521513964000_62.6.405.10","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01796-3"},{"key":"2025100521513964000_62.6.405.11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24022"},{"key":"2025100521513964000_62.6.405.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.05.007"},{"key":"2025100521513964000_62.6.405.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2022.101818"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg-2024-110580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:51:49Z","timestamp":1759726309000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg-2024-110580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,26]]},"references-count":13,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,5,27]]},"published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1136\/jmg-2024-110580"],"URL":"https:\/\/doi.org\/10.1136\/jmg-2024-110580","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,26]]}}}