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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