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Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops—Expanding the phenotype of IPEX syndrome |
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| Authors: | Sara L. Reichert Eileen M. McKay Julie S. Moldenhauer |
| Affiliation: | 1. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania;2. Correspondence to:;3. Sara L. Reichert, Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA. E‐mail:;4. Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| Abstract: | |
| Keywords: | IPEX syndrome FOXP3 mutations prenatal diagnosis fetal hydrops whole exome sequencing |