Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
| dc.contributor.author | Porta Dapena, María Elena | |
| dc.contributor.author | Rodríguez Rodríguez, Celia María | |
| dc.date.accessioned | 2017-06-07T06:59:27Z | |
| dc.date.available | 2017-06-07T06:59:27Z | |
| dc.date.issued | 2015 | |
| dc.identifier.issn | 0002-9297 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.11940/1391 | |
| dc.language.iso | eng | |
| dc.title | Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type | |
| dc.type | Artigo | es |
| dc.authorsophos | :Isrie, M | |
| dc.authorsophos | Breuss, M | |
| dc.authorsophos | Tian, GL | |
| dc.authorsophos | Hansen, AH | |
| dc.authorsophos | Cristofoli, F | |
| dc.authorsophos | Morandell, J | |
| dc.authorsophos | Kupchinsky, ZA | |
| dc.authorsophos | Sifrim, A | |
| dc.authorsophos | Rodriguez-Rodriguez, CM | |
| dc.authorsophos | Dapena, EP | |
| dc.authorsophos | Doonanco, K | |
| dc.authorsophos | Leonard, N | |
| dc.authorsophos | Tinsa, F | |
| dc.authorsophos | Moortgat, S | |
| dc.authorsophos | Ulucan, H | |
| dc.authorsophos | Koparir, E | |
| dc.authorsophos | Karaca, E | |
| dc.authorsophos | Katsanis, N | |
| dc.authorsophos | Marton, V | |
| dc.authorsophos | Vermeesch, JR | |
| dc.authorsophos | Davis, EE | |
| dc.authorsophos | Cowan, NJ | |
| dc.authorsophos | Keays, DA | |
| dc.authorsophos | Van Esch, H. | |
| dc.identifier.doi | 10.1016/j.ajhg.2015.10.014 | |
| dc.identifier.isi | 368437900002 | |
| dc.identifier.pmid | 26637975 | |
| dc.identifier.sophos | 17618 | |
| dc.issue.number | 6 | |
| dc.journal.title | AMERICAN JOURNAL OF HUMAN GENETICS | |
| dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Ourense - Complexo Hospitalario Universitario de Ourense::Cirurxía Pediátrica | |
| dc.rights.accessRights | openAccess | |
| dc.typesophos | Artículo Original | |
| dc.volume.number | 97 |
Files in this item
| Files | Size | Format | View |
|---|---|---|---|
|
There are no files associated with this item. |
|||
This item appears in the following Collection(s)






