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dc.contributor.author | Urreizti, Roser |
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dc.contributor.author | Cueto González, Anna María |
dc.contributor.author | Franco Valls, Héctor |
dc.contributor.author | Mort Farre, Sílvia |
dc.contributor.author | Roca Ayats, Neus |
dc.contributor.author | Ponomarenko, Julia |
dc.contributor.author | Cozzuto, Luca |
dc.contributor.author | Company, Carlos |
dc.contributor.author | Bosio, Mattia |
dc.contributor.author | Ossowski, Stephan |
dc.contributor.author | Montfort, Magda |
dc.contributor.author | Hecht, Jochen |
dc.contributor.author | Tizzano, Eduardo F. |
dc.contributor.author | Cormand, Bru |
dc.contributor.author | Vilageliu, Lluïsa |
dc.contributor.author | Opitz, John M. |
dc.contributor.author | Neri, Giovanni |
dc.contributor.author | Grinberg, Daniel |
dc.contributor.author | Balcells, Susana |
dc.date | 2017 |
dc.identifier.citation | Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Sci Rep. 2017 Mar 10;7:44138. DOI: 10.1038/srep44138 |
dc.identifier.citation | 2045-2322 |
dc.identifier.citation | http://dx.doi.org/10.1038/srep44138 |
dc.identifier.uri | http://hdl.handle.net/10230/35222 |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Nature Publishing Group |
dc.relation | Sci Rep. 2017 Mar 10;7:44138 |
dc.relation | info:eu-repo/grantAgreement/ES/1PE/SAF2014-56562-R |
dc.rights | info:eu-repo/semantics/openAccess |
dc.rights | © The Author(s) 2017. This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
dc.rights | http://creativecommons.org/licenses/by/4.0/ |
dc.subject | Molecular medicine |
dc.subject | Magel2 |
dc.subject | Schaaf-yang syndrome |
dc.subject | Opitz trigonocephaly C syndrome |
dc.title | A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |
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