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...