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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

dc.contributor.authorBárcena Fernández, Clea 
dc.contributor.authorQuesada Fernández, Víctor 
dc.contributor.authorSandre-Giovannoli, Annachiara de
dc.contributor.authorPuente, Diana
dc.contributor.authorFernández Toral, Joaquín 
dc.contributor.authorVelasco Cotarelo, María Gloria 
dc.contributor.authorLópez Otín, Carlos 
dc.date.accessioned2014-07-31T09:38:24Z
dc.date.available2014-07-31T09:38:24Z
dc.date.issued2014
dc.identifier.citationBMC Medical Genetics, 15(1), p. 1-6 (2014); doi:10.1186/1471-2350-15-51
dc.identifier.issn1471-2350
dc.identifier.urihttp://hdl.handle.net/10651/28043
dc.description.sponsorshipThis work was supported by grants from Ministerio de Economía y Competitividad-Spain and Red Temática de Investigación del Cáncer (RTICC).
dc.description.sponsorshipThis work was supported by grants from Ministerio de Economía y Competitividad-Spain and Red Temática de Investigación del Cáncer (RTICC). C.L-O. is an Investigator of the Botín Foundation. V.Q. is a Ramón y Cajal Investigator with the Consolider-Ingenio RNAREG Consortium. The Instituto Universitario de Oncología is supported by Obra Social Cajastur and Instituto de Salud Carlos III (RTICC).
dc.description.statementofresponsibilityBárcena, C., Quesada, V., De Sandre-Giovannoli, A., Puente, D.A., Fernández-Toral, J., Sigaudy, S., Baban, A., Lévy, N., Velasco, G., López-Otín, C.
dc.format.extentp. 1-6
dc.language.isoeng
dc.relation.ispartofBMC Medical Genetics
dc.rights© Bárcena et al.
dc.rightsCC Reconocimiento - No comercial - Sin obras derivadas 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScopus
dc.source.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-84900537480&partnerID=40&md5=9b1cf5ae2d981a387c8c4acb8cd5093e
dc.titleExome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndromeeng
dc.typeinfo:eu-repo/semantics/article
dc.identifier.local20141867
dc.identifier.doi10.1186/1471-2350-15-51
dc.type.dcmitext
dc.relation.publisherversionhttp://dx.doi.org/10.1186/1471-2350-15-51


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