The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders

The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders

Marfan syndrome (MFS) is a multisystem genetic disorder with over 3000 mutations described in the fibrillin 1 (FBN1) gene. Like MFS, other connective tissue disorders also require a deeper understanding of the phenotype-genotype relationship due to the complexity of the clinical presentation, where...

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Bibliographic Details
Main Authors: Giovanny Fuentevilla-Álvarez, María Elena Soto, Yazmín Estela Torres-Paz, Sergio Enrique Meza-Toledo, Gilberto Vargas-Alarcón, Nadia González-Moyotl, Israel Pérez-Torres, Linaloe Manzano-Pech, Ana Maria Mejia, Claudia Huesca-Gómez, Ricardo Gamboa
Format: Article
Language:English
Published: Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina 2024-03-01
Series:Biomolecules & Biomedicine
Subjects:
Marfan syndrome (MFS)
other connective tissue disease
next-generation sequencing (NGS)
genetic mutations
cardiovascular damage
Mexican patients
Online Access:https://www.bjbms.org/ojs/index.php/bjbms/article/view/9578

Internet

https://www.bjbms.org/ojs/index.php/bjbms/article/view/9578

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