Barth Syndrome: Different Approaches to Diagnosis - 16/12/17
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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.
Le texte complet de cet article est disponible en PDF.Keywords : Barth syndrome, TAZ gene, dilated cardiomyopathy, whole exome sequencing, mitochondrial disease, sudden cardiac death
Abbreviations : CL, ETC, MLCL, RT-PCR
Plan
Supported by JSPS KAKENHI (JP16K19404), a grant from the Strategic Research Center in Private Universities from MEXT, Japan, and the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development, AMED. The authors declare no conflicts of interest. |
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