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We describe a highly inbred family in which glioblastoma multiforme presents in males only as an isolated central nervous system neoplasm on the right side, without evidence of other underlying genetic disease. It is speculated that in this family the tumor develops as the consequence of an autosomal recessive or an X\u2010linked recessive mutation. In addition, the gene for cystic fibrosis segregates in this family and an undefined autosomal recessive malformation syndrome was detected.<\/jats:p>","DOI":"10.1002\/ajmg.1320210415","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:25Z","timestamp":1118519965000},"page":"731-735","source":"Crossref","is-referenced-by-count":9,"title":["Familial glioblastoma multiforme without neurofibromatosis"],"prefix":"10.1002","volume":"21","author":[{"given":"J.","family":"Chemke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Katznelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Zucker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.11.1061"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1227\/00006123-198301000-00004"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.2.81"},{"key":"e_1_2_1_5_1","first-page":"223","volume-title":"Genetics of Human Cancer","author":"Fraumeni JF","year":"1977"},{"key":"e_1_2_1_6_1","first-page":"33","volume-title":"Advances in Neurology, Neurofibromatosis (von Recklinghausen disease)","author":"Hope DG","year":"1981"},{"key":"e_1_2_1_7_1","volume-title":"Cancer and Genetics","author":"Horton WA","year":"1976"},{"issue":"1","key":"e_1_2_1_7_2","first-page":"91","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_8_1","first-page":"349","article-title":"Lesions of the central nervous system in multiple neurofibromatosis","volume":"74","author":"Kramer W","year":"1971","journal-title":"Psychiatr Neurol Neurosurg"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1969.00480080054006"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80256-9"},{"key":"e_1_2_1_11_1","first-page":"2026","volume-title":"Pathology of the Nervous System","author":"Manuelidis EE","year":"1971"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.11.1038"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198112313052704"},{"key":"e_1_2_1_14_1","first-page":"11","volume-title":"Advances in Neurology, Neurofibromatosis (von Recklinghausen disease)","author":"Rubenstein AE","year":"1981"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1227\/00006123-198011000-00001"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006123-198207010-00003"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210415","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T09:52:14Z","timestamp":1695808334000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1002\/ajmg.1320210415"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210415","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,8]]}}}