Sign Up to like & get
recommendations!
0
Published in 2023 at "Molecular genetics & genomic medicine"
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