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Diaphragmatic Hernia As The First Echographic Sign In Apert Syndrome
Discordant Phenotype In Monozygotic Twins With Fryns Syndrome
Donnai-Barrow Syndrome.
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome.
De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic he
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