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Although the combination of NF1 and an overgrowth syndrome resembling Weaver syndrome in this family may be fortuitous, we favour the hypothesis that the deletion of the entire gene has caused this combined phenotype. Possible pathogenetic mechanisms are discussed. The observation suggests a relation between NF1 with an extraordinarily large gene deletion and a Weaver(-like) syndrome. This warrants investigation for deletions in the 17q11.2 region in Weaver(-like) syndrome patients.<\/jats:p>","DOI":"10.1136\/jmg.35.4.323","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"323-327","source":"Crossref","is-referenced-by-count":23,"title":["Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome."],"prefix":"10.1136","volume":"35","author":[{"given":"C J","family":"van Asperen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W C","family":"Overweg-Plandsoen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M H","family":"Cnossen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D A","family":"van Tijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R C","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1126\/science.3107130","article-title":"Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17","volume":"236","author":"Barker, D.W.; Wright, E.; Nguyen, K.","year":"1987","unstructured":"Barker DW, Wright E, Nguyen K, et al. 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