Article
Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.
Clinical genetics - 1 Mar 2026
Alqahtani Aisha, Tulbah Sahar, Alruwaili Nadiah, Takroni Saud, Alkorashy Maarab, Manea Waleed, Albert Brotons Dimpna C, Alwadai Abdullah, Alburaiki Jehad, Alkuraya Fowzan, Al-Hashmi Nadiah, Zarroug Samah, Al-Hassnan Zuhair N
Abstract excerpt
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. This study aims to outline the clinical and genetic characteristics associated with recessively inherited NRAP truncating variants in our highly consanguineous...
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