Article

Case Report: Lethal Non-immune Hydrops Fetalis with Biallelic Inheritance of PKP2 Variants

2023-01-10

Abstract excerpt

Here we describe a male infant with non-immune hydrops fetalis associated with congenital cardiomyopathy diagnosed prenatally. Whole-exome sequencing detected compound heterozygous c.1688+1G>A and p.(Asn759Ilefs*41) variants in the PKP2 gene inherited independently from his asymptomatic parents. Our present case supports the severe phenotype of biallelic inheritance of PKP2 gene pathogenic variants

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Literature Corpus work: 150e445f-56dd-50ef-adde-5a55edf6fe42
DOI: 10.22541/au.167335852.24127002/v1

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