A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
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DOI: 10.1002/mgg3.2190
Abstract: Barth syndrome (BTHS) is an X-linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3-methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ, which encodes a putative acyltransferase named tafazzin and is involved in… read more here.
Keywords: barth syndrome; severe heart; case; case infantile ... See more keywords