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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8460539

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

About this item

Full title

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

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Human genetics, 2021-10, Vol.140 (10), p.1459-1469

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

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, t...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8460539

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8460539

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-021-02344-6

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