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Article

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb n...

Uirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak… in Human Genetics (2021)