C syndrome - what do we know and what could the future hold?

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dc.contributor.authorUrreizti, Roser
dc.contributor.authorGrinberg Vaisman, Daniel Raúl
dc.contributor.authorBalcells Comas, Susana
dc.date.accessioned2024-03-18T14:13:51Z
dc.date.available2024-03-18T14:13:51Z
dc.date.issued2019-03-02
dc.date.updated2024-03-18T14:13:51Z
dc.description.abstractIn 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.extent4 p.
dc.format.mimetypeapplication/pdf
dc.identifier.idgrec687510
dc.identifier.issn2167-8707
dc.identifier.urihttps://hdl.handle.net/2445/208921
dc.language.isoeng
dc.publisherTaylor & Francis
dc.relation.isformatofVersió postprint del document publicat a: https://doi.org/10.1080/21678707.2019.1589448
dc.relation.ispartofExpert Opinion On Orphan Drugs, 2019, vol. 7, num.3, p. 91-94
dc.relation.urihttps://doi.org/10.1080/21678707.2019.1589448
dc.rights(c) Taylor & Francis, 2019
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.sourceArticles publicats en revistes (Genètica, Microbiologia i Estadística)
dc.subject.classificationCrani
dc.subject.classificationDiagnòstic
dc.subject.classificationMalformacions
dc.subject.otherSkull
dc.subject.otherDiagnosis
dc.subject.otherHuman abnormalities
dc.titleC syndrome - what do we know and what could the future hold?
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/acceptedVersion

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