Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted

IntroductionThe diagnostic odyssey in rare diseases often involves the misinterpretation of genetic data, particularly when multidisciplinary approaches are lacking. This study illustrates the critical process of interpreting variants from next-generation sequencing (NGS) through a real-life case of...

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Hauptverfasser:	Minerva Montero-Hernández, Nahuel Pérez-Moix, María-Carmen Carrascosa-Romero, María-Pilar López-Garrido, Francisco Sánchez-Sánchez
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2026-04-01
Schriftenreihe:	Frontiers in Pediatrics
Schlagworte:	diagnostic odyssey Marfan syndrome misdiagnosis MYH11 precision medicine rare diseases
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fped.2026.1803924/full
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