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Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability

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dc.creatorOrtega?Recalde, O.spa
dc.creatorBeltrán, O.I.spa
dc.creatorGálvez, J.M.spa
dc.creatorPalma?Montero, A.spa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.creatorMateus, H.E.spa
dc.creatorLaissue, P.spa
dc.date.accessioned2020-05-26T00:04:22Z
dc.date.available2020-05-26T00:04:22Z
dc.date.created2015spa
dc.description.abstractWe report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future genotype-phenotype correlations and for a molecular diagnosis of overgrowth. © 2015 John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1111/cge.12634
dc.identifier.issn00099163
dc.identifier.issn13990004
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23680
dc.language.isoengspa
dc.publisherBlackwell Publishing Ltdspa
dc.relation.citationEndPagee3
dc.relation.citationIssueNo. 4
dc.relation.citationStartPagee1
dc.relation.citationTitleClinical Genetics
dc.relation.citationVolumeVol. 88
dc.relation.ispartofClinical Genetics, ISSN:00099163, 13990004, Vol.88, No.4 (2015); pp. e1-e3spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84941744212&doi=10.1111%2fcge.12634&partnerID=40&md5=d2f02cd5771c9fec207f29f1500d6701spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAllelespa
dc.subject.keywordArticlespa
dc.subject.keywordhumaneng
dc.subject.keywordhumaneng
dc.subject.keywordCase reportspa
dc.subject.keywordClinical featurespa
dc.subject.keywordColombianspa
dc.subject.keywordExomespa
dc.subject.keywordFace dysmorphiaspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGenotype phenotype correlationspa
dc.subject.keywordHerc 1 genespa
dc.subject.keywordHumanspa
dc.subject.keywordIntellectual impairmentspa
dc.subject.keywordMalespa
dc.subject.keywordMolecular diagnosisspa
dc.subject.keywordNewbornspa
dc.subject.keywordPathogenesisspa
dc.subject.keywordPriority journalspa
dc.subject.keywordSequence analysisspa
dc.subject.keywordSiblingspa
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordGenetic association studyspa
dc.subject.keywordGeneticsspa
dc.subject.keywordGrowth disorderspa
dc.subject.keywordHuman genomespa
dc.subject.keywordIntellectual impairmentspa
dc.subject.keywordMutationspa
dc.subject.keywordPathologyspa
dc.subject.keywordSyndromespa
dc.subject.keywordGuanine nucleotide exchange factorspa
dc.subject.keywordHerc1 proteineng
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic association studiesspa
dc.subject.keywordGenomeeng
dc.subject.keywordGrowth disordersspa
dc.subject.keywordGuanine nucleotide exchange factorsspa
dc.subject.keywordHumansspa
dc.subject.keywordIntellectual disabilityspa
dc.subject.keywordMalespa
dc.subject.keywordMutationspa
dc.subject.keywordSyndromespa
dc.subject.keywordExome sequencingspa
dc.subject.keywordHerc1 mutationsspa
dc.subject.keywordHerc1 mutationsspa
dc.subject.keywordIntellectual disabilityspa
dc.subject.keywordOvergrowthspa
dc.titleBiallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disabilityspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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