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We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation(More)
We describe a young girl with dilated cardiomyopathy, long QT syndrome, and possible energy deficiency. Two major sequence changes were identified by whole exome sequencing (WES) and mitochondrial(More)