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Article

Clinical and Genetic Characterization of Esophageal Atresia: A Contemporary Cohort Integrating Phenotyping and Genomic Testing.

Genes - 1 Jun 2026

Marin-Reina Purificacion, Reig Talamante Irene, Parra Llorca Anna, Navarro Escandell Inmaculada, Martin Grau Carla, Cabrera Angel Zuñiga, Navarro Moreno Cinta, Gabaldon Albero Alba, Orellana Alonso Carmen, Rosello Piera Monica, Saenz Gonzalez Pilar, Martinez Castellano Francisco

Abstract excerpt

Background: Esophageal atresia (EA) is a complex congenital anomaly frequently associated with additional malformations and genetic conditions. Despite advances in prenatal imaging and genomic technologies, establishing an etiologic diagnosis and performing accurate risk stratification remain challenging due to marked clinical and genetic heterogeneity. Methods: We conducted a retrospective cohort study of...

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Identifiers

PMID: 42353814
DOI: 10.3390/genes17060654
PMCID: PMC13299261

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