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The deletion of the entire paternal NF1 allele argues strongly that this disorder is not caused by the action of an abnormal NF1 protein. The extent of the deletion suggests that the mental retardation and dysmorphism of this patient may result from a deletion involving both the NF1 gene and contiguous genetic material.<\/jats:p>","DOI":"10.1136\/jmg.29.10.686","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"686-690","source":"Crossref","is-referenced-by-count":52,"title":["Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism."],"prefix":"10.1136","volume":"29","author":[{"given":"L M","family":"Kayes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V M","family":"Riccardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Burke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R L","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Stephens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1992,10,1]]},"reference":[{"key":"ref_1","article-title":"A clinical, pathological, and genetic study of multiple neurofibromas","author":"Crowe, F.W.; Schull, W.T.; Neel, J.V.","year":"1956","unstructured":"Crowe FW, Schull WT, Neel JV. 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