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dc.contributor.authorMendioroz, J
dc.contributor.authorCuevas Catalina, María Lourdes 
dc.contributor.authorBermejo-Sanchez, Eva 
dc.contributor.authorMartínez-Frías, María Luisa 
dc.date.accessioned2022-04-18T11:24:55Z
dc.date.available2022-04-18T11:24:55Z
dc.date.issued2006-10
dc.identifier.citationBoletín del ECEMC: Rev Dismor Epidemiol 2006; V (nº 5): 2-17es_ES
dc.identifier.issn0210–3893es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/14017
dc.descriptionDismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCes_ES
dc.description.abstractThe hamartoneoplastic syndromes are an heterogeneous group of diseases characterized by their risk to develop malignant tumors among other clinical features that vary from one syndrome to another. Most of these pathologies also share endocrinological abnormalities and sometimes, genetic characteristics, including the autosomal dominant mode of inheritance. Therefore, pediatricians must be aware of their main characteristics in order to prevent as soon as possible further complications and to provide the appropiate genetic counseling to the affected patients and their families. In this chapter, we have classified these pathologies in seven different groups according to the more frequently affected tissue by the development of hamartomas. For each of these groups we reviewed the hamartoneoplastic syndromes that have some manifestations at birth. Finally, some practical guidelines are provided for their clinical, genetic diagnosis, and management.es_ES
dc.language.isospaes_ES
dc.publisherInstituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER) es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectHamartoneoplastic syndromeses_ES
dc.subjectGeneticses_ES
dc.subjectClinical featureses_ES
dc.titleRevisión: Aspectos clínicos y genéticos de las hamartoneoplasias que pueden ser diagnosticadas en los tres primeros días de vidaes_ES
dc.title.alternativeClinical and genetic aspects of the hamartoneoplastic syndromes that can be diagnosed during the three first days of life.es_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.format.volumeVes_ES
dc.format.number5es_ES
dc.format.page2-17es_ES
dc.description.peerreviewedNoes_ES
dc.identifier.journalBoletín del ECEMC: Revista de Dismorfología y Epidemiologíaes_ES
dc.repisalud.centroISCIIIes_ES
dc.repisalud.institucionISCIIIes_ES
dc.rights.accessRightsopen accesses_ES


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Atribución-NoComercial-CompartirIgual 4.0 Internacional
Este Item está sujeto a una licencia Creative Commons: Atribución-NoComercial-CompartirIgual 4.0 Internacional