Clinical genetics
Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.
Aisha Alqahtani, Sahar Tulbah, Nadiah Alruwaili, Saud Takroni, Maarab Alkorashy, Waleed Manea, Dimpna C Albert Brotons, Abdullah Alwadai, Jehad Alburaiki, Fowzan Alkuraya, Nadiah Al-Hashmi, Samah Zarroug, Zuhair N Al-Hassnan
Published: 202510.1111/cge.70078
Abstract
Dilated Cardiomyopathy (DCM) is a genetically heterogeneous condition of left ventricular dilation and systolic dysfunction, leading to heart failure. It is mostly inherited in a dominant pattern. Recessive inheritance has been rarely encountered. Th…
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