A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

dc.contributor.author	Carracedo Álvarez, Ángel
dc.contributor.author	Barros Angueira, Francisco
dc.contributor.author	Castro Gago, Manuel
dc.contributor.author	Eiris Puñal, Jesús
dc.contributor.author	Lago Lestón, Ramón Manuel
dc.date.accessioned	2017-06-07T07:03:31Z
dc.date.available	2017-06-07T07:03:31Z
dc.date.issued	2015
dc.identifier.issn	1552-4825
dc.identifier.uri	http://hdl.handle.net/20.500.11940/2123
dc.language.iso	eng
dc.title	A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features
dc.type	Artigo	es
dc.authorsophos	Quintela, I
dc.authorsophos	Barros, F
dc.authorsophos	Lago-Leston, R
dc.authorsophos	Castro-Gago, M
dc.authorsophos	Carracedo, A
dc.authorsophos	Eiris, J
dc.identifier.doi	10.1002/ajmg.a.36909
dc.identifier.isi	355276700021
dc.identifier.pmid	25847113
dc.identifier.sophos	18823
dc.issue.number	6
dc.journal.title	AMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.organization	Consellería de Sanidade::Fundación pública Galega de Medicina Xenómica
dc.organization	Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Pediatría
dc.page.initial	1315
dc.page.final	1322
dc.rights.accessRights	openAccess
dc.typesophos	Artículo Original
dc.volume.number	167

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