Article
Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.
Human molecular genetics - 1 Aug 2017
Long Pamela A, Theis Jeanne L, Shih Yu-Huan, Maleszewski Joseph J, Abell Aleff Patrice C, Evans Jared M, Xu Xiaolei, Olson Timothy M
Abstract excerpt
Non-ischemic dilated cardiomyopathy (DCM) has been recognized as a heritable disorder for over 25 years, yet clinical genetic testing is non-diagnostic in >50% of patients, underscoring the ongoing need for DCM gene discovery. Here, whole exome sequencing uncovered a novel molecular basis for idiopathic end-stage heart failure in two sisters who underwent cardiac transplantation at three years of age. Compound...
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