El «Viaje del Paciente» busca identificar las necesidades que son específicas para un síndrome en particular. Para lograrlo, los representantes de los pacientes han completado un «mapa» de las necesidades de cada uno de los síndromes genéticos raros que representan, a través de las diferentes etapas del Recorrido del Paciente. Esta es la definición […]
Adamo et al. describen un nuevo síndrome Cutis Laxa causado por una pérdida de función bi-alelítica de las variantes EMILIN1 caracterizado por una tortuosidad arterial, la formación de aneurismas y una osteopenia. Demuestran que EMILIN1 conecta la red de fibras elásticas con la formación de fibrillas de colágeno, indispensable tanto para los huesos como para […]
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El «Viaje del Paciente» Cutis Laxa
/en Investigación, Investigación- Medicina - Genética, Mutations, Noticias /por Marie-ClaudeEl «Viaje del Paciente» busca identificar las necesidades que son específicas para un síndrome en particular. Para lograrlo, los representantes de los pacientes han completado un «mapa» de las necesidades de cada uno de los síndromes genéticos raros que representan, a través de las diferentes etapas del Recorrido del Paciente. Esta es la definición […]
UNA NUEVA MUTACIóN : EMILIN1
/en Investigación, Investigación- Medicina - Genética, Mutations, Noticias /por Marie-ClaudeAdamo et al. describen un nuevo síndrome Cutis Laxa causado por una pérdida de función bi-alelítica de las variantes EMILIN1 caracterizado por una tortuosidad arterial, la formación de aneurismas y una osteopenia. Demuestran que EMILIN1 conecta la red de fibras elásticas con la formación de fibrillas de colágeno, indispensable tanto para los huesos como para […]