PLS3 Missense Variants Affecting the Actin-Binding Domains Cause X-linked Congenital Diaphragmatic Hernia and Body-Wall Defects.
The American Journal of Human Genetics（2023）
关键词
PLS3, plastin,fimbrin,actin-binding protein,congenital diaphragmatic hernia,X-linked,abdominal hernia,umbilical hernia,omphalocele
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