Direct-to-consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands

Am J Med Genet C Semin Med Genet. 2024 Aug 16:e32108. doi: 10.1002/ajmg.c.32108. Online ahead of print.

No abstract available

Keywords: CTNNB1; cerebral palsy; direct‐to‐consumer; genome sequencing; neurodevelopmental disorder; rare disease.