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

doi:10.1007/s00439-021-02344-6

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

Human genetics - 1 Oct 2021

Melo Uirá Souto, Piard Juliette, Fischer-Zirnsak Björn, Klever Marius-Konstantin, Schöpflin Robert, Mensah Martin Atta, Holtgrewe Manuel, Arbez-Gindre Francine, Martin Alain, Guigue Virginie, Gaillard Dominique, Landais Emilie, Roze Virginie, Kremer Valerie, Ramanah Rajeev, Cabrol Christelle, Harms Frederike L, Kornak Uwe, Spielmann Malte, Mundlos Stefan, Van Maldergem Lionel

Abstract excerpt

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 normal lung development causing different lung malformations is a major goal for dissecting molecular mechanisms during embryogenesis. Here, through exome sequencing (ES), array CGH, genome sequencing (GS)...

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PMID: 34436670
DOI: 10.1007/s00439-021-02344-6
PMCID: PMC8460539

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