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".

0 MEDICINE, RESEARCH & EXPERIMENTAL Biomolecules & biomedicine Pub Date : 2024-09-06 DOI:10.17305/bb.2024.10799
Ana M Serrano Ardila, Gilda S Garza Mayén, Alejandro Gaviño-Vergara
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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.

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关于 "基因小组在墨西哥马凡氏综合征和其他结缔组织疾病患者分类和提高诊断准确性方面的作用 "的信函。
亲爱的编辑,我们阅读了贵刊最近发表的文章 "基因小组在墨西哥马凡综合征和其他结缔组织疾病患者分类和提高诊断准确性中的作用"。我们是一个致力于诊断、治疗和管理结缔组织疾病患者的团队,尤其是高移动性频谱疾病 (HSD) 和埃勒斯-丹洛斯综合征 (EDS)。我们赞赏研究小组利用多面板遗传方法解决结缔组织疾病复杂性的努力,以及他们对墨西哥患者队列中基因型-表型关联的分析。然而,我们希望就两个具体问题表达我们的担忧,我们认为这两个问题对于全面了解和管理这些疾病至关重要。阅读 PDF 中的更多内容。
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