The diagnostic odyssey: our family’s story
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference3 articles.
1. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder;Heimer;Am. J. Hum. Genet.,2016
2. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease;Riley;Genet. Med.,2020
3. A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants;Cakici;Am. J. Hum. Genet.,2020
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