Letter regarding “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”

Abstract

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. We are a team dedicated to diagnosing, approaching, and managing patients with connective tissue disorders, particularly hypermobile spectrum disorders (HSD) and Ehlers–Danlos syndromes (EDS). We appreciate the research group’s effort to address the complexity of connective tissue disorders using a multi-panel genetic approach and their analysis of genotype–phenotype associations in a cohort of Mexican patients. However, we would like to express our concern regarding two specific points that we consider crucial for the comprehensive understanding and management of these disorders. Read more in the PDF.

Keywords

• Genetic panel
• connective tissue disorders
• genotype-phenotype correlations
• clinical geneticists
• diagnostic accuracy
• molecular studies