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This case illustrates the need to recognise exceptional variations of fragile X syndrome mutations.<\/jats:p>","DOI":"10.1136\/jmg.33.5.376","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"376-378","source":"Crossref","is-referenced-by-count":35,"title":["FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male."],"prefix":"10.1136","volume":"33","author":[{"given":"Z","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A K","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Bridge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/ajmg.1320230152","article-title":"Prevalence of the fragile-X syndrome in mentally retarded children in a Swedish county","volume":"23","author":"Gustavson, G.; Bloomquist, H.K.; Holmgren, G.","year":"1986","unstructured":"Gustavson G, Bloomquist HK, Holmgren G. 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