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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease barth syndrome
Symptom C0878544|cardiomyopathy
Sentences 3
PubMedID- 23031367 Intrafamilial variability for novel taz gene mutation: barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.
PubMedID- 20812380 barth syndrome: an x-linked cause of fetal cardiomyopathy and stillbirth.
PubMedID- 22427193 Left ventricular noncompaction cardiomyopathy in barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation.

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