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Author

Katya Oustinov

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Open access Oct 2026

Functional characterization of a non-coding RUNX1T1 variant in a kindred with esophageal atresia

Abstract Introduction Esophageal atresia (EA) is a congenital foregut malformation with substantial genetic heterogeneity. While coding variants explain some syndromic cases, the molecular basis of non-syndromic EA remains largely unknown. We investigated an Israeli-Bedouin kindred with a high incidence of non-syndromi...

Nadav Agam, Sarit Aharoni, B. Yerushalmi et al. · 0 citations

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