Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants

Marisa E Schwab,Shan Dong,Billie R Lianoglou,Alessandra F Aguilar Lucero,Grace B Schwartz,Mary E Norton,Tippi C MacKenzie,Stephan J Sanders

The American Journal of Surgery（2022）

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摘要

•A quarter of fetuses with CDH were found to have a variant on exome sequencing.•Three variants are known to be associated with CDH; three variants are novel.•Variants in NR2F2, PTPN11, and WT1 support the role of these genes in CDH.

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关键词

Congenital diaphragmatic hernia,Exome sequencing,WT1,NR2F2,PTPN11,HDAC6

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