Please use this identifier to cite or link to this item:
https://hdl.handle.net/2445/208921
Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Urreizti, Roser | - |
dc.contributor.author | Grinberg Vaisman, Daniel Raúl | - |
dc.contributor.author | Balcells Comas, Susana | - |
dc.date.accessioned | 2024-03-18T14:13:51Z | - |
dc.date.available | 2024-03-18T14:13:51Z | - |
dc.date.issued | 2019-03-02 | - |
dc.identifier.issn | 2167-8707 | - |
dc.identifier.uri | https://hdl.handle.net/2445/208921 | - |
dc.description.abstract | In 1969 Opitz et al. described two siblings with a new syndrome, which they called ‘C syndrome of multiple congenital abnormalities’ and was presented as a ‘probably private syndrome’. After this first description, new cases appeared with highly similar phenotypes and a new syndrome, known as C Syndrome, Opitz C Syndrome or Opitz Trigonocephaly Syndrome (OCS; MIM # 211,750) was firmly established. | - |
dc.format.extent | 4 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Taylor & Francis | - |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1080/21678707.2019.1589448 | - |
dc.relation.ispartof | Expert Opinion On Orphan Drugs, 2019, vol. 7, num.3, p. 91-94 | - |
dc.relation.uri | https://doi.org/10.1080/21678707.2019.1589448 | - |
dc.rights | (c) Taylor & Francis, 2019 | - |
dc.source | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | - |
dc.subject.classification | Crani | - |
dc.subject.classification | Diagnòstic | - |
dc.subject.classification | Malformacions | - |
dc.subject.other | Skull | - |
dc.subject.other | Diagnosis | - |
dc.subject.other | Human abnormalities | - |
dc.title | C syndrome - what do we know and what could the future hold? | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.identifier.idgrec | 687510 | - |
dc.date.updated | 2024-03-18T14:13:51Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
Files in This Item:
File | Description | Size | Format | |
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216084.pdf | 128.79 kB | Adobe PDF | View/Open |
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