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Overlapping Phenotype of Adult-Onset ALPK3 -Cardiomyopathy in the Setting of Two Novel Variants

1 Dec 2022

Abstract excerpt

Inherited cardiomyopathies (CMPs) are fairly common causes of morbidity and mortality, particularly, in young individuals. In substantial number of cases, only morphological diagnostic criteria cannot distinguish one CMP from another because of incomplete penetrance, advanced stage of the disease, or overlapping phenotypes. Genetic testing has become a mandatory tool for definite diagnosis that is required for...

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PMID: 36660067
DOI: 10.14740/cr1449

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