Extensa familia con síndrome de Marfan en la que se demuestra la patogenicidad de una variante «sinónima» (p.Ile2118=) en el gen de la fibrilina 1

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Extensa familia con síndrome de Marfan en la que se demuestra la patogenicidad de una variante «sinónima» (p.Ile2118=) en el gen de la fibrilina 1

Cited by 4 publications

References 7 publications

Relevance of Etiological Study of Aortic Dissection: Family History and Histology as Key Players

Relevance of Etiological Study of Aortic Dissection: Family History and Histology as Key Players

Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene

Relevancia del estudio etiológico de la disección de aorta: la historia familiar y la histología como protagonistas

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