Publication
Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromes
| dc.contributor.author | Freixo, J.P. | |
| dc.contributor.author | Marques, M. | |
| dc.contributor.author | Fino, J. | |
| dc.contributor.author | Carvalho, I. | |
| dc.contributor.author | Talkowski, M.E. | |
| dc.contributor.author | Morton, C. | |
| dc.contributor.author | David, D. | |
| dc.date.accessioned | 2018-03-29T11:41:14Z | |
| dc.date.available | 2018-03-29T11:41:14Z | |
| dc.date.issued | 2017-11 | |
| dc.description.abstract | Introduction: Microdeletions or contiguous gene syndromes are characterized by variable complex clinical phenotypes caused by hemizygosity of contiguous genes, defined mainly by a common deletion region, or of a major causal gene locus. Delineation of the pathogenic genes within these CGS regions is a major challenge. Identification of breakpoints at nucleotide resolution of balanced chromosomal rearrangements localized within these regions constitutes a key strategy for definition of the phenotypically important genes. The aim of this study is the identification of molecular alterations responsible for an extremely complex clinical phenotype resembling 1q41q42 microdeletion syndrome (coarse facial features, severe developmental delay, congenital heart disease and congenital microcephaly) presented by an individual with the t(1;3)(q42.11;p25.3)dn. | pt_PT |
| dc.description.sponsorship | FCT (HMSP-ICT/0016/2013) | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5494 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.relation.publisherversion | http://spgh.net/wp-content/uploads/2017/11/Livro-Abstracts-SPGH-2017_final_com-logotipos-002.pdf | pt_PT |
| dc.subject | Microdeletions | pt_PT |
| dc.subject | Contiguous Gene Syndromes | pt_PT |
| dc.subject | Doenças Genómicas | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromes | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/HMSP-ICT%2F0016%2F2013/PT | |
| oaire.citation.conferencePlace | Capuchos, Almada, Portugal | pt_PT |
| oaire.citation.title | 21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 novembro 2017 | pt_PT |
| oaire.fundingStream | 3599-PPCDT | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isProjectOfPublication | 55f3392d-71be-4224-bedd-9feb4a06c428 | |
| relation.isProjectOfPublication.latestForDiscovery | 55f3392d-71be-4224-bedd-9feb4a06c428 |