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Wenjing Zhou

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Case report Open access Jul 2026

Novel compound heterozygous variants in the PLD1 gene causing cardiac valve dysplasia 1 complicated with dilated cardiomyopathy: a case report

Two novel compound heterozygous variants in PLD1 may be the pathogenic genetic cause of cardiac valve dysplasia 1 (CVDD1) complicated with dilated cardiomyopathy (DCM) in this patient, which expands the variant spectrum of PLD1 and provides valuable evidence for genetic diagnosis and genetic counseling of CVDD1 and rel...

Xiaohuan Zhang, Xiang Liu, Wenjing Zhou et al. · 0 citations

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