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

Sun, L; Yang, XM; Xu, YS; Sun, SY; Wu, QC

Wu, QC (corresponding author), Xiamen Univ, Ctr Prenatal Diag, Women & Childrens Hosp, 10 Zhenhai Rd, Xiamen, Fujian, Peoples R China.

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2021; 60 (3): 530

Abstract

Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype-phenotyp......

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