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...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2021-05-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |