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• W2051519086 abstract "Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In 2012, AFD1 has been associated with dominant mutations in <i>SF3B4</i>. We report a 22-week-old fetus with AFD1 associated with diaphragmatic hernia due to a previously unreported <i>SF3B4</i> mutation (c.35-2A>G). Defective diaphragmatic development is a rare manifestation in AFD1 as it is described in only 2 previous cases, with molecular confirmation in 1 of them. Our molecular finding adds a novel pathogenic splicing variant to the <i>SF3B4 </i>mutational spectrum and contributes to defining its prenatal/fetal phenotype." @default.
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• W2051519086 date "2014-01-01" @default.
• W2051519086 modified "2023-09-26" @default.
• W2051519086 title "A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel <b><i>SF3B4</i></b> Mutation" @default.
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• W2051519086 doi "https://doi.org/10.1159/000365769" @default.
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