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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

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 [ver mas...]
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. [Cerrar]
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Author
Faria, Ágatha Cristhina;   Atique, Ferraz de Rodrigo Toledo;   Rebouças, Maria Regina Galvêas Oliveira;   Cavagnaro, Pablo;   Rabbi-Bortolini, Eliete;   Passos-Bueno, Maria Rita;   Errera, Flávia Imbroisi Valle;  
Descripción
5th Congress of the Brazilian Biotechnology Society (SBBIOTEC), Florianópolis, Brazil. 10-14 November 2013
Fuente
BMC proceedings 8 (Suppl 4) : 1. (2014)
Date
2014
Editorial
BioMed Central
ISSN
1753-6561
URI
http://hdl.handle.net/20.500.12123/3133
https://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-8-S4-P1
DOI
https://doi.org/10.1186/1753-6561-8-S4-P1
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Tipo de documento
póster
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Excepto donde se diga explicitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
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