Barth Syndrome: Different Approaches to Diagnosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 29249525.
- Also identified by DOI 10.1016/j.jpeds.2017.09.075.
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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.
Medical subject headings
- Barth Syndrome
- Transcription Factors