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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

17 Oct 2022

Abstract excerpt

Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much more severe phenotype with premature death, bi-allelic variants in LDB3 have not yet been reported. Here we identify biallelic loss-of-function variants in five...

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PMID: 36253531
DOI: 10.1038/s41431-022-01204-9

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