Phenotypic spectrum of ALPK3‐related cardiomyopathy

Cardiomyopathies are clinically heterogeneous disorders and are the leading cause of cardiovascular morbidity and mortality. Different etiologies have a significant impact on prognosis. Recently, novel biallelic loss‐of‐function pathogenic variants in alpha‐kinase 3 (ALPK3) were implicated in causin...

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Veröffentlicht in:American journal of medical genetics. Part A 2019-07, Vol.179 (7), p.1235-1240
Hauptverfasser: Al Senaidi, Khalfan, Joshi, Niranjan, Al‐Nabhani, Maryam, Al‐Kasbi, Ghalia, Al Farqani, Abdullah, Al‐Thihli, Khalid, Al‐Maawali, Almundher
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Sprache:eng
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