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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Diaphragmatic Hernia As The First Echographic Sign In Apert Syndrome
Discordant Phenotype In Monozygotic Twins With Fryns Syndrome
Donnai-Barrow Syndrome.
Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome.
Excessive Reversal of Epidermal Growth Factor Receptor and Ephrin Signaling Following
Extralobar sequestration of lung associated with CDH and malrotation of gut
Features of Marfan Syndrome Not Listed in the Ghent Nosology - The Dark Side of the Disease
Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.
For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.
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