Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8812644 | The Journal of Pediatrics | 2018 | 5 Pages |
Abstract
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.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Perinatology, Pediatrics and Child Health
Authors
Atsuko MD, PhD, MPH, Yoshihito PhD, Masakazu PhD, Yukiko MS, Tomoko MS, Yosuke PhD, Hiroko Harashima, Keiichi MD, PhD, Fukiko MD, PhD, Atsuko MD, PhD, Masayuki MD, PhD, Chiho MD, Ritsuo MD, PhD, Atsuhito MD, PhD, Akihiro PhD, Yasushi MD, PhD, Kei MD,