Recorrido y evolución de las tecnologías citogenómicas en las enfermedades poco frecuentes De dónde venimos, dónde estamos y hacia dónde vamos
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Las enfermedades poco frecuentes (EPF) son colectivamente comunes en la práctica diaria; la mayoría de ellas son de etiología genética e implican una alta carga de morbilidad tanto individual como poblacional.
El desarrollo tecnológico de la citogenómica, en el último siglo, pero especialmente en las últimas tres décadas revolucionó el abordaje, diagnóstico y manejo de esas patologías. Este artículo revisa los principales hitos al respecto, desde la teoría cromosómica de la herencia hasta el fascinante mapa del genoma humano telómero a telómero.
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Derechos de autor: Actualizaciones en Osteología es la revista oficial de la Asociación Argentina de Osteología y Metabolismo Mineral (AAOMM) que posee los derechos de autor de todo el material publicado en dicha revista.
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