CFC index for the diagnosis of cardiofaciocutaneous syndrome

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dc.contributor.authorKavamura, Maria Ines [UNIFESP]
dc.contributor.authorPeres, Clovis de Araujo [UNIFESP]
dc.contributor.authorAlchorne, Maurício Mota de Avelar [UNIFESP]
dc.contributor.authorBrunoni, Decio [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T12:33:31Z
dc.date.available2016-01-24T12:33:31Z
dc.date.issued2002-09-15
dc.description.abstractControversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress. (C) 2002 Wiley-Liss, Inc.en
dc.description.affiliationUniversidade Federal de São Paulo, Escola Paulista Med, Ctr Genet Med, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Escola Paulista Med, Dept Dermatol, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Escola Paulista Med, Dept Bioestat, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Escola Paulista Med, Ctr Genet Med, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Escola Paulista Med, Dept Dermatol, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Escola Paulista Med, Dept Bioestat, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent12-16
dc.identifierhttp://dx.doi.org/10.1002/ajmg.10681
dc.identifier.citationAmerican Journal of Medical Genetics. New York: Wiley-liss, v. 112, n. 1, p. 12-16, 2002.
dc.identifier.doi10.1002/ajmg.10681
dc.identifier.issn0148-7299
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/26977
dc.identifier.wosWOS:000177684000003
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectmultiple anomaliesen
dc.subjectcardiopathyen
dc.subjectmental retardationen
dc.subjectectodermal abnormalities nosologyen
dc.subjectNoonan syndromeen
dc.subjectCostello syndromeen
dc.titleCFC index for the diagnosis of cardiofaciocutaneous syndromeen
dc.typeinfo:eu-repo/semantics/article
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