Novel KLHL26 variant associated with a familial case of Ebstein ’s anomaly and left ventricular noncompaction

ConclusionIn this familial case of EA/LVNC, we have identified a candidate gene variant,KLHL26 (p.R237C), which may have an important role in ubiquitin ‐mediated protein degradation during cardiac development.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1152?af=R

Source: Molecular Genetics & Genomic Medicine - January 26, 2020 Category: Genetics & Stem Cells Authors: Sai Suma K. Samudrala, Lauren M. North, Karl D. Stamm, Michael G. Earing, Michele A. Frommelt, Richard Willes, Swarnendu Tripathi, Nikita R. Dsouza, Michael T. Zimmermann, Donna K. Mahnke, Huan Ling Liang, Michael Lund, Chien ‐Wei Lin, Gabr Tags: ORIGINAL ARTICLE Source Type: research