Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report
Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype–phenotype correlation. Case report: A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomali...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-05-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455921000772 |