A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain
dc.contributor.author | Quintela, Inés | |
dc.contributor.author | Fernández Prieto, Montserrat | |
dc.contributor.author | Gómez Guerrero, Lorena María | |
dc.contributor.author | Resches, Mariela | |
dc.contributor.author | Eiris Puñal, Jesús | |
dc.contributor.author | Barros Angueira, Francisco | |
dc.contributor.author | Carracedo Álvarez, Ángel | |
dc.date.accessioned | 2017-06-07T07:03:36Z | |
dc.date.available | 2017-06-07T07:03:36Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 2050-0904 | |
dc.identifier.uri | http://hdl.handle.net/20.500.11940/2136 | |
dc.language.iso | eng | |
dc.rights | Attribution-NonCommercial 4.0 Internacional | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc/4.0/ | |
dc.title | A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain | |
dc.type | Artigo | |
dc.authorsophos | Quintela, I | |
dc.authorsophos | Fernandez-Prieto, M | |
dc.authorsophos | Gomez-Guerrero, L | |
dc.authorsophos | Resches, M | |
dc.authorsophos | Eiris, J | |
dc.authorsophos | Barros, F | |
dc.authorsophos | Carracedo, A | |
dc.identifier.doi | 10.1002/ccr3.255 | |
dc.identifier.isi | 363386400018 | |
dc.identifier.pmid | 26185640 | |
dc.identifier.sophos | 18824 | |
dc.issue.number | 6 | |
dc.journal.title | Clinical Case Reports | |
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 | 415 | |
dc.page.final | 423 | |
dc.rights.accessRights | openAccess | |
dc.typesophos | Artículo Original | |
dc.volume.number | 3 |