| pubmed-article:17668385 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17668385 | lifeskim:mentions | umls-concept:C0221355 | lld:lifeskim |
| pubmed-article:17668385 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:17668385 | lifeskim:mentions | umls-concept:C1136249 | lld:lifeskim |
| pubmed-article:17668385 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:17668385 | lifeskim:mentions | umls-concept:C1538965 | lld:lifeskim |
| pubmed-article:17668385 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:17668385 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:17668385 | pubmed:dateCreated | 2007-8-1 | lld:pubmed |
| pubmed-article:17668385 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17668385 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17668385 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17668385 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17668385 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17668385 | pubmed:abstractText | In the course of systematic screening of the X-chromosome coding sequences in 250 families with nonsyndromic X-linked mental retardation (XLMR), two families were identified with truncating mutations in BRWD3, a gene encoding a bromodomain and WD-repeat domain-containing protein. In both families, the mutation segregates with the phenotype in affected males. Affected males have macrocephaly with a prominent forehead, large cupped ears, and mild-to-moderate intellectual disability. No truncating variants were found in 520 control X chromosomes. BRWD3 is therefore a new gene implicated in the etiology of XLMR associated with macrocephaly and may cause disease by altering intracellular signaling pathways affecting cellular proliferation. | lld:pubmed |
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| pubmed-article:17668385 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17668385 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17668385 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:17668385 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17668385 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17668385 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17668385 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:17668385 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:BobrowMartinM | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:LuoYingY | lld:pubmed |
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| pubmed-article:17668385 | pubmed:author | pubmed-author:JonesDavidD | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:RichardsonDav... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:TurnerGillian... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:PartingtonMic... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:WoosterRichar... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:FutrealP... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:EdkinsSarahS | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:TeagueJonJ | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:DicksEdE | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:GrayKristianK | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:MenziesAndrew... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:StevensClaire... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:FieldMichaelM | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:MironenkoTati... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:MulleyJohnJ | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:ColeJenniferJ | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:GeczJozefJ | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:StevensonRoge... | lld:pubmed |
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| pubmed-article:17668385 | pubmed:author | pubmed-author:ButlerAdamA | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:SchwartzCharl... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:RaymondF... | lld:pubmed |
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| pubmed-article:17668385 | pubmed:author | pubmed-author:WestSofieS | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:MallyaUmaU | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:MoonJennyJ | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:O'MearaSarahS | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:SmithRaffaell... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:HallidayKelly... | lld:pubmed |
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| pubmed-article:17668385 | pubmed:author | pubmed-author:PerryJanetJ | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:RaineKeiranK | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:SmallAlexandr... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:ToftsCalliC | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:VarianJennife... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:WidaaSaraS | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:HughesHelenH | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:CorbettMarkM | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:BuckGemmaG | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:BarthorpeSydS | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:ShawMarieM | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:JenkinsonAndr... | lld:pubmed |
| pubmed-article:17668385 | pubmed:author | pubmed-author:FriendKathryn... | lld:pubmed |
| pubmed-article:17668385 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17668385 | pubmed:volume | 81 | lld:pubmed |
| pubmed-article:17668385 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17668385 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17668385 | pubmed:pagination | 367-74 | lld:pubmed |
| pubmed-article:17668385 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:17668385 | pubmed:meshHeading | pubmed-meshheading:17668385... | lld:pubmed |
| pubmed-article:17668385 | pubmed:meshHeading | pubmed-meshheading:17668385... | lld:pubmed |
| pubmed-article:17668385 | pubmed:meshHeading | pubmed-meshheading:17668385... | lld:pubmed |
