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De Novo Frameshift Mutation in COUP-TFII (NR2F2) in Human Congenital Diaphragmatic Hernia

COUP-TFII (NR2F2) is mapped to the 15q26 deletion hotspot associated with the common and highly morbid congenital diaphragmatic hernia (CDH). Conditional homozygous deletions of COUP-TFII in mice result in diaphragmatic defects analogous to the human Bochdalek-type hernia phenotype. Despite evidence...

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Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: High, Frances A., Bhayani, Pooja, Wilson, Jay M., Bult, Carol J., Donahoe, Patricia K., Longoni, Mauro
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5003181/
https://ncbi.nlm.nih.gov/pubmed/27363585
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37830
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