Article
Barth Syndrome: Different Approaches to Diagnosis.
The Journal of pediatrics - 1 Feb 2018
Imai-Okazaki Atsuko, Kishita Yoshihito, Kohda Masakazu, Yatsuka Yukiko, Hirata Tomoko, Mizuno Yosuke, Harashima Hiroko, Hirono Keiichi, Ichida Fukiko, Noguchi Atsuko, Yoshida Masayuki, Tokorodani Chiho, Nishiuchi Ritsuo, Takeda Atsuhito, Nakaya Akihiro, Sakata Yasushi, Murayama Kei, Ohtake Akira, Okazaki Yasushi
Abstract excerpt
The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with phenotypic and allelic heterogeneity that were diagnosed by different approaches, including whole exome sequencing and final confirmation by reverse-transcription polymease chain reaction.
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