Article
New targets for monitoring and therapy in Barth syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2016
Thompson W Reid, DeCroes Brittany, McClellan Rebecca, Rubens Jessica, Vaz Frédéric M, Kristaponis Kara, Avramopoulos Dimitrios, Vernon Hilary J
Abstract excerpt
PURPOSE: Barth syndrome (BTHS), an X-linked disorder caused by defects in TAZ, is the only known single-gene disorder of cardiolipin remodeling. We hypothesized that through analysis of affected individuals, we would gain a better understanding of the range of clinical features and identify targets for monitoring and therapy. METHODS: We conducted a multidisciplinary investigation involving 42 patients with BTHS,...
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