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 […]
Cutis Laxa presenta habitualmente trastornos cardiovasculares que requieren un seguimiento específico. Se pueden utilizar diversas técnicas, como ecocardiografía, escáner y resonancia magnética. Cada una de estas técnicas tiene sus ventajas y desventajas y debe elegirse según lo que se desee examinar.
https://www.cutislaxa.org/wp-content/uploads/2023/01/laura.jpg199160Marie-Claudehttp://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.pngMarie-Claude2022-12-27 17:44:282023-01-08 17:47:32Dr. Laura Muiño Mosquera, MD (Gante, Bélgica): Seguimiento Cardiovascular de la CL
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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 […]
Dr. Laura Muiño Mosquera, MD (Gante, Bélgica): Seguimiento Cardiovascular de la CL
/en fotos, Investigación, Investigación- Medicina - Genética, Mutations, Noticias /por Marie-ClaudeCutis Laxa presenta habitualmente trastornos cardiovasculares que requieren un seguimiento específico. Se pueden utilizar diversas técnicas, como ecocardiografía, escáner y resonancia magnética. Cada una de estas técnicas tiene sus ventajas y desventajas y debe elegirse según lo que se desee examinar.