Publication
Coffin-Siris syndrome
| dc.contributor.author | Levy, Pilar Quinhones | |
| dc.contributor.author | Baraitser, Michael | |
| dc.date.accessioned | 2020-11-20T14:49:24Z | |
| dc.date.available | 2020-11-20T14:49:24Z | |
| dc.date.issued | 1991-05 | |
| dc.description | opyright © 1991, BMJ Publishing Group Ltd. All rights reserved. | pt_PT |
| dc.description.abstract | In 1970 Coffin and Siris described three unrelated female children with severe mental and developmental retardation, sparse scalp hair, and coarse appearing facies with bushy eyebrows, a wide mouth, and thick lips. There were, in addition, lax joints and brachydactyly of the fifth digits of both hands and feet with absence of the nails and terminal phalanges. To our knowledge, there have been 31 cases of this condition reported and these are reviewed in the present paper with the addition of two new cases. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Journal of Medical Genetics 1991;28:338-341 | pt_PT |
| dc.identifier.doi | 10.1136/jmg.28.5.338 | pt_PT |
| dc.identifier.eissn | 1468-6244 | |
| dc.identifier.issn | 0022-2593 | |
| dc.identifier.uri | http://hdl.handle.net/10451/44947 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | BMJ Publishing Group Ltd. | pt_PT |
| dc.relation.publisherversion | https://jmg.bmj.com/ | pt_PT |
| dc.title | Coffin-Siris syndrome | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 341 | pt_PT |
| oaire.citation.issue | 5 | pt_PT |
| oaire.citation.startPage | 338 | pt_PT |
| oaire.citation.title | Journal of Medical Genetics | pt_PT |
| oaire.citation.volume | 28 | pt_PT |
| person.familyName | Levy | |
| person.givenName | Pilar | |
| person.identifier.orcid | 0000-0002-6171-0175 | |
| person.identifier.scopus-author-id | 7202556500 | |
| rcaap.rights | restrictedAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isAuthorOfPublication | ac7f0d8f-660e-44bf-acae-030781201dd4 | |
| relation.isAuthorOfPublication.latestForDiscovery | ac7f0d8f-660e-44bf-acae-030781201dd4 |
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