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- W2004360999 abstract "This paper describes a female infant with achondroplasia, Down syndrome and tetralogy of Fallot. Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively. The clinical course was complicated by pulmonary hypoplasia and subsequent intractable respiratory failure secondary to the combination of congenital conditions, which resulted in the patient’s death at 5 months." @default.
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- W2004360999 title "Down Syndrome, Achondroplasia and Tetralogy of Fallot" @default.
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- W2004360999 doi "https://doi.org/10.1159/000113310" @default.
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