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Case Report: Lethal Non-immune Hydrops Fetalis with Biallelic Inheritance of PKP2 Variants
  • Fatima AlSaif,
  • Malika AlFaraj,
Fatima AlSaif
John Hopkins Aramco Healthcare
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Malika AlFaraj
John Hopkins Aramco Healthcare
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John Hopkins Aramco Healthcare

Corresponding Author:[email protected]

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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
27 Dec 2022Submitted to Clinical Case Reports
10 Jan 2023Assigned to Editor
10 Jan 2023Submission Checks Completed
30 Jan 2023Reviewer(s) Assigned
17 Feb 2023Review(s) Completed, Editorial Evaluation Pending
22 Feb 2023Editorial Decision: Revise Minor
30 Mar 20231st Revision Received