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Síndromes muy poco frecuentes

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SíndromesMuyPocoFrecuentes_2004.pdf (430.29 KB)
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URI: http://hdl.handle.net/20.500.12105/13697
ISSN: 0210–3893
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2004-10
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Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
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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.
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Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC
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Dismorfología Anomalías congénitas Epidemiología Síndrome de Townes-Bröcks Síndrome de MMT Síndrome de Smith-Lemli-Opitz Síndrome de Coffin-Siris Síndrome de Silver-Russell Síndrome de Fusión espleno-gonadal
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Boletín del ECEMC: Rev Dismor Epidemiol 2004; V (nº 3): 14-17
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Boletín del ECEMC: Revista de Dismorfología y Epidemiología - 2004 - Serie V Nº 3
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journal article