{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:52:27Z","timestamp":1760982747973,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,6]]},"abstract":"<jats:p>We report a family with type 2 neurofibromatosis and late onset tumours. Five members of this family have developed hearing loss late in life, two of whom have only been shown to have the diagnosis in their seventies, and three other obligate gene carriers died undiagnosed at 64, 72, and 78 years of age. A missense mutation at the C-terminal end of the NF2 protein has been identified in this family and segregates with disease. The use of highly polymorphic markers for predictive testing is also shown. There appears to be an autosomal dominant form of spinocerebellar degeneration which is segregating separately to NF2 in this family, which created a diagnostic dilemma.<\/jats:p>","DOI":"10.1136\/jmg.32.6.470","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"470-474","source":"Crossref","is-referenced-by-count":18,"title":["Diagnostic issues in a family with late onset type 2 neurofibromatosis."],"prefix":"10.1136","volume":"32","author":[{"given":"D G","family":"Evans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Bourn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R T","family":"Ramsden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J D","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Strachan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,6,1]]},"reference":[{"key":"ref_1","first-page":"603","article-title":"A clinical study of type 2 neurofibromatosis","volume":"84","author":"Evans, D.G.R.; Huson, S.; Donnai, D.","year":"1992","unstructured":"Evans DGR, Huson S, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q Med 1992;84:603-18.","journal-title":"Q Med"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1212\/WNL.30.8.851","article-title":"Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis","volume":"30","author":"Kanter, W.R.; Eldridge, R.; Fabricant, R.; Allen, J.C.; Koerber, T.","year":"1980","unstructured":"Kanter WR, Eldridge R, Fabricant R, Allen JC, Koerber T. Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology 1980;30:851-9.","journal-title":"Neurology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1136\/jmg.29.12.847","article-title":"A genetic study of type 2 neurofibromatosis. 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