2024
DOI: 10.17305/bb.2023.9578
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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

Giovanny Fuentevilla-Álvarez,
María Elena Soto,
Yazmín Estela Torres-Paz
et al.

Abstract: 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 diagnostic criteria often overlap. Our objective was to identify mutations in patients with connective tissue disorders using a genetic multipanel and to analyze the genotype-phenotype associations in a cohort of Me… Show more

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“…Letter regarding "The usefulness of the genetic panel in the classi cation and re nement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders" Ana M. Serrano-Ardila 1 * , Gilda S. Garza-Mayén 2 , and Alejandro Gaviño-Vergara 3 Dear Editor, We have read the article "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", recently published in your esteemed journal [1].…”
Section: Letter To the Editormentioning
confidence: 99%
“…Letter regarding "The usefulness of the genetic panel in the classi cation and re nement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders" Ana M. Serrano-Ardila 1 * , Gilda S. Garza-Mayén 2 , and Alejandro Gaviño-Vergara 3 Dear Editor, We have read the article "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", recently published in your esteemed journal [1].…”
Section: Letter To the Editormentioning
confidence: 99%