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"

• Published in: Biomolecules & Biomedicine Vol. 24; no. 5; pp. 1435 - 1436
• Main Authors: Serrano Ardila, Ana M, Garza Mayén, Gilda S, Gaviño-Vergara, Alejandro
• Format: Journal Article
• Language: English
• Published: Bosnia and Herzegovina Association of Basic Medical Sciences 01.10.2024; Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
• Subjects: clinical geneticists; Connective Tissue Diseases - diagnosis; Connective Tissue Diseases - genetics; connective tissue disorders; diagnostic accuracy; Genetic Association Studies - methods; Genetic panel; Genetic Testing - methods; genotype-phenotype correlations; Humans; Letter to the Editor; Marfan Syndrome - diagnosis; Marfan Syndrome - genetics; Mexico; molecular studies; Mexico
• ISSN: 2831-0896; 2831-090X; 2831-090X
• DOI: 10.17305/bb.2024.10799

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.