dc.creatorAravena, Teresa
dc.creatorPassalacqua, Cristóbal
dc.creatorPizarro, Oscar
dc.creatorAracena, Mariana
dc.date.accessioned2019-03-11T13:02:24Z
dc.date.available2019-03-11T13:02:24Z
dc.date.created2019-03-11T13:02:24Z
dc.date.issued2011
dc.identifierAmerican Journal of Medical Genetics, Part A, Volumen 155, Issue 10, 2018, Pages 2552-2555
dc.identifier15524825
dc.identifier15524833
dc.identifier10.1002/ajmg.a.34204
dc.identifierhttps://repositorio.uchile.cl/handle/2250/165349
dc.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.
dc.languageen
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
dc.sourceAmerican Journal of Medical Genetics, Part A
dc.subjectCraniosynostosis
dc.subjectHypertrichosis
dc.subjectHypoplastic labia majora
dc.titleTwo sisters resembling Gorlin-Chaudhry-Moss syndrome
dc.typeArtículo de revista


Este ítem pertenece a la siguiente institución