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Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome |
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| Authors: | Kara K. Reynolds Jane Juusola Gregory M. Rice Philip F. Giampietro |
| Affiliation: | 1. University of Wisconsin‐Madison, Madison, Wisconsin;2. GeneDx, Gaithersburg, Maryland;3. Drexel University College of Medicine, Philadelphia, Pennsylvania |
| Abstract: | |
| Keywords: | diaphragmatic hernia Fryns syndrome HPMRS glycosylphosphatidylinositol (GPI) anchor synthesis pathway Mabry syndrome |