Estudio molecular de pacientes colombianos afectados por enanismo esencial

dc.contributorMateus Arbelaez, Heidi Eliana
dc.contributorLaissue, Paul
dc.creatorNavarrete Vargas, Julie Viviana
dc.date.accessioned2017-05-23T20:11:15Z
dc.date.available2017-05-23T20:11:15Z
dc.date.created2017-05-23T20:11:15Z
dc.date.issued2017
dc.identifierhttp://repository.urosario.edu.co/handle/10336/13421
dc.identifierhttps://doi.org/10.48713/10336_13421
dc.description.abstractMicrocephalic primordial dwarfism syndromes are a group of rare monogenic diseases that are characterized primarily by extreme low stature of prenatal onset and severe microcephaly. In patients who participated in the study, variants in the gene PCNT was investigated because they had clinical findings consistent with the MOPD II (Microcephalic osteodisplastic primordial dwarfism type II) syndrome. The study was expanded with exome sequencing in a patient who presented heterozygous variants in the PCNT gene, which could not explain the phenotype. This find gave room for the discovery of a new variant in the DDX11 gene that allowed for the diagnosis of the Warsaw Breakage syndrome in the patient.
dc.languagespa
dc.publisherUniversidad del Rosario
dc.publisherMaestría en Ciencias con Énfasis en Genética Humana
dc.publisherFacultad de medicina
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightsAbierto (Texto completo)
dc.rightsAtribución-NoComercial-SinDerivadas 2.5 Colombia
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dc.sourceinstname:Universidad del Rosario
dc.sourcereponame:Repositorio Institucional EdocUR
dc.subjectEnanismo esencial
dc.subjectMicrocefalia
dc.subjectSíndrome MOPD II
dc.subjectSíndrome de Warsaw Breakage
dc.subjectPCNT
dc.subjectDDX11
dc.subjectEl Santuario
dc.titleEstudio molecular de pacientes colombianos afectados por enanismo esencial
dc.typemasterThesis


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