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Authordc.contributor.authorAravena, Teresa 
Authordc.contributor.authorPassalacqua, Cristóbal 
Authordc.contributor.authorPizarro, Oscar 
Authordc.contributor.authorAracena, Mariana 
Admission datedc.date.accessioned2019-03-11T13:02:24Z
Available datedc.date.available2019-03-11T13:02:24Z
Publication datedc.date.issued2011
Cita de ítemdc.identifier.citationAmerican Journal of Medical Genetics, Part A, Volumen 155, Issue 10, 2018, Pages 2552-2555
Identifierdc.identifier.issn15524825
Identifierdc.identifier.issn15524833
Identifierdc.identifier.other10.1002/ajmg.a.34204
Identifierdc.identifier.urihttps://repositorio.uchile.cl/handle/2250/165349
Abstractdc.description.abstractThe 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.
Lenguagedc.language.isoen
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
Link to Licensedc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
Sourcedc.sourceAmerican Journal of Medical Genetics, Part A
Keywordsdc.subjectCraniosynostosis
Keywordsdc.subjectHypertrichosis
Keywordsdc.subjectHypoplastic labia majora
Títulodc.titleTwo sisters resembling Gorlin-Chaudhry-Moss syndrome
Document typedc.typeArtículo de revista
Catalogueruchile.catalogadorSCOPUS
Indexationuchile.indexArtículo de publicación SCOPUS
uchile.cosechauchile.cosechaSI


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Attribution-NonCommercial-NoDerivs 3.0 Chile
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile