Article
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.
Molecular genetics & genomic medicine - 1 Dec 2023
Ford Cara P, Littlejohn Rebecca O, German Ryan, Vuocolo Blake, Aceves Jose, Vossaert Liesbeth, Owen Nichole, Wangler Michael, Schmid Carrie A
Abstract excerpt
BACKGROUND: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing...
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