Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population
Abstract 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 previou...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-12-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2272 |