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Paweł Stankiewicz

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Open access Jan 2026

Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five‐Generation Family

It is proposed that one or more of the variants within the TBX4 lung‐specific super‐enhancer or TAD may act in trans with the pathogenic CGR, modulating TBX4 expression from the intact allele.

Shruti Pande, Hiuling Chan Joiner, P. Szafranski et al. · 0 citations