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dc.contributor.author | Mendioroz, J | |
dc.contributor.author | Bermejo-Sanchez, Eva | |
dc.contributor.author | López Grondona, Fermín | |
dc.contributor.author | Felix Rodríguez, V | |
dc.contributor.author | Valdivia, L | |
dc.contributor.author | Rosa, A | |
dc.contributor.author | Blanco, M | |
dc.contributor.author | Sanchis, A | |
dc.contributor.author | Centeno, F | |
dc.contributor.author | Espinosa Pérez, MJ | |
dc.contributor.author | Ayala, A | |
dc.contributor.author | Pérez, JL. | |
dc.contributor.author | Mousallem, D | |
dc.contributor.author | Burón Martínez, E | |
dc.contributor.author | Vázquez García, MS | |
dc.contributor.author | Rodríguez-Pinilla, Elvira | |
dc.contributor.author | Martínez-Frías, María Luisa | |
dc.date.accessioned | 2022-02-22T11:28:03Z | |
dc.date.available | 2022-02-22T11:28:03Z | |
dc.date.issued | 2004-10 | |
dc.identifier.citation | Boletín del ECEMC: Rev Dismor Epidemiol 2004; V (nº 3): 14-17 | es_ES |
dc.identifier.issn | 0210–3893 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/13697 | |
dc.description | Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC | es_ES |
dc.description.abstract | In an attempt to facilitate the knowledge of the malformation syndromes that have very few frequencies to pediatricians and first health care physicians, particularly to those of rural areas, we have selected six new syndromes. As in previous years, the syndromes are selected from the ECEMC database registry. In this Boletín we include the following syndromes: Townes-Bröcks, MMT, Smith-Lemli-Opitz, Coffin-Siris, Espleno-gonadal fusion, and Silver-Russell syndromes. For each syndrome, we described the most important clinical characteristics, and the present knowledge of their causal factors. | es_ES |
dc.language.iso | spa | es_ES |
dc.publisher | Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER) | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/4.0/ | * |
dc.subject | Dismorfología | es_ES |
dc.subject | Anomalías congénitas | es_ES |
dc.subject | Epidemiología | es_ES |
dc.subject | Síndrome de Townes-Bröcks | es_ES |
dc.subject | Síndrome de MMT | es_ES |
dc.subject | Síndrome de Smith-Lemli-Opitz | es_ES |
dc.subject | Síndrome de Coffin-Siris | es_ES |
dc.subject | Síndrome de Silver-Russell | es_ES |
dc.subject | Síndrome de Fusión espleno-gonadal | es_ES |
dc.title | Síndromes muy poco frecuentes | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución-NoComercial-CompartirIgual 4.0 Internacional | * |
dc.format.volume | V | es_ES |
dc.format.number | 3 | es_ES |
dc.format.page | 14-17 | es_ES |
dc.description.peerreviewed | No | es_ES |
dc.identifier.journal | Boletín del ECEMC: Revista de Dismorfología y Epidemiología | es_ES |
dc.repisalud.centro | ISCIII | es_ES |
dc.repisalud.institucion | ISCIII | es_ES |
dc.rights.accessRights | open access | es_ES |