Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly
Background: Prenatal whole exome sequencing (WES) approaches can provide genetic diagnosis with rapid turnaround time and high diagnostic rate when conventional tests are negative. Here we report a family with multiple pregnancy loss and with repeated occurrence of fetal microcephaly. Methods and re...
| Hauptverfasser: | , , , , |
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| Format: | Artikel |
| Sprache: | English |
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Elsevier
2024-03-01
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| Schriftenreihe: | Molecular Genetics and Metabolism Reports |
| Schlagworte: | |
| Online Zugang: | http://www.sciencedirect.com/science/article/pii/S2214426924000090 |