To access the full text documents, please follow this link: http://hdl.handle.net/2445/149573
dc.contributor | Universitat de Barcelona |
---|---|
dc.contributor.author | Manson, Samantha |
dc.contributor.author | Castilla Vallmanya, Laura |
dc.contributor.author | Con, James |
dc.contributor.author | Andrews, P. Ian |
dc.contributor.author | Balcells Comas, Susana |
dc.contributor.author | Grinberg Vaisman, Daniel Raúl |
dc.contributor.author | Kirk, E.P. |
dc.contributor.author | Urreizti Frexedas, Roser |
dc.date | 2020-02-07T14:04:05Z |
dc.date | 2020-02-07T14:04:05Z |
dc.date | 2019-02-22 |
dc.date | 2020-02-07T14:04:05Z |
dc.identifier.citation | 0025-7974 |
dc.identifier.citation | 684924 |
dc.identifier.uri | http://hdl.handle.net/2445/149573 |
dc.format | 6 p. |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Lippincott, Williams & Wilkins. Wolters Kluwer Health |
dc.relation | Reproducció del document publicat a: https://doi.org/10.1097/MD.0000000000014524 |
dc.relation | Medicine, 2019, vol. 98, num. 8, p. e14529 |
dc.relation | https://doi.org/10.1097/MD.0000000000014524 |
dc.rights | cc-by (c) Manson, Samantha et al., 2019 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.rights | http://creativecommons.org/licenses/by/3.0/es |
dc.subject | Glicolípids |
dc.subject | Trastorns del desenvolupament |
dc.subject | Glycolipids |
dc.subject | Developmental disabilities |
dc.title | Case report of a child bearing a novel deleterious splicing variant in PIGT |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |
dc.description.abstract |