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Author | dc.contributor.author | Aravena, Teresa | |
Author | dc.contributor.author | Passalacqua, Cristóbal | |
Author | dc.contributor.author | Pizarro, Oscar | |
Author | dc.contributor.author | Aracena, Mariana | |
Admission date | dc.date.accessioned | 2019-03-11T13:02:24Z | |
Available date | dc.date.available | 2019-03-11T13:02:24Z | |
Publication date | dc.date.issued | 2011 | |
Cita de ítem | dc.identifier.citation | American Journal of Medical Genetics, Part A, Volumen 155, Issue 10, 2018, Pages 2552-2555 | |
Identifier | dc.identifier.issn | 15524825 | |
Identifier | dc.identifier.issn | 15524833 | |
Identifier | dc.identifier.other | 10.1002/ajmg.a.34204 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/165349 | |
Abstract | dc.description.abstract | The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal intelligence. Two other sporadic instances have been documented. Here, we report on two sisters with a condition with some similarities to GCMS as well as some differences, which could represent either previously unreported variability in GCMS, or it may represent a novel disorder. © 2011 Wiley-Liss, Inc. | |
Lenguage | dc.language.iso | en | |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
Source | dc.source | American Journal of Medical Genetics, Part A | |
Keywords | dc.subject | Craniosynostosis | |
Keywords | dc.subject | Hypertrichosis | |
Keywords | dc.subject | Hypoplastic labia majora | |
Título | dc.title | Two sisters resembling Gorlin-Chaudhry-Moss syndrome | |
Document type | dc.type | Artículo de revista | |
Cataloguer | uchile.catalogador | SCOPUS | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |
uchile.cosecha | uchile.cosecha | SI | |
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Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile