dc.creator | Faria, Ágatha Cristhina | |
dc.creator | Atique, Ferraz de Rodrigo Toledo | |
dc.creator | Rebouças, Maria Regina Galvêas Oliveira | |
dc.creator | Cavagnaro, Pablo | |
dc.creator | Rabbi-Bortolini, Eliete | |
dc.creator | Passos-Bueno, Maria Rita | |
dc.creator | Errera, Flávia Imbroisi Valle | |
dc.date.accessioned | 2018-08-21T14:11:14Z | |
dc.date.accessioned | 2023-03-15T13:55:40Z | |
dc.date.available | 2018-08-21T14:11:14Z | |
dc.date.available | 2023-03-15T13:55:40Z | |
dc.date.created | 2018-08-21T14:11:14Z | |
dc.date.issued | 2014 | |
dc.identifier | 1753-6561 | |
dc.identifier | https://doi.org/10.1186/1753-6561-8-S4-P1 | |
dc.identifier | http://hdl.handle.net/20.500.12123/3133 | |
dc.identifier | https://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-8-S4-P1 | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/6206380 | |
dc.description.abstract | Craniosynostosis results from premature ossification of
one or more cranial sutures and leads to alterations in
the shape of the skull and/or premature closure of cranial
fontanels, causing impairment of brain perfusion,
vision and hearing, airway obstruction, learning difficulties,
severe cosmetic deformities and high intracranial
pressure [1]. To date, the genetic mechanisms leading to
sagittal craniosynostosis are poorly known. The identification
of candidate genes underlying this condition may
contribute to elucidation of the etiology of this common
malformation. The aim of this study was to associate
genotype-phenotype of a patient with a deletion in the
long arm of chromosome 10 and craniosynostosis. | |
dc.language | eng | |
dc.publisher | BioMed Central | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.source | BMC proceedings 8 (Suppl 4) : 1. (2014) | |
dc.subject | Hibridación | |
dc.subject | Cromosomas | |
dc.subject | Genes Indicadores | |
dc.subject | Reporter Genes | |
dc.subject | Chromosomes | |
dc.subject | Hybridization | |
dc.title | Array comparative genomic hybridization in confirmation of the deleted genes in a patient with subterminal deletion of the long arm of chromosome 10 associated with sagittal craniosynostosis and dysmorphic features | |
dc.type | info:ar-repo/semantics/póster | |
dc.type | info:eu-repo/semantics/conferenceObject | |
dc.type | info:eu-repo/semantics/publishedVersion | |