Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report

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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Bibliographic Details
Main Authors: Li Sun, Xiaomei Yang, Yasong Xu, Shiyu Sun, Qichang Wu
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Whole exome sequencing (WES)
PIGN gene
Glycosylphosphatidylinositol (GPI)
Congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)
Fryns syndrome (FS)
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455921000772

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