Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth

Autor: Schönewolf-Greulich, Bitten, Karstensen, Helena Gásdal, Hjortshøj, Tina D., Jørgensen, Finn Stener, Harder, Katja M., Frevert, Susanne, Hove, Hanne, Diness, Birgitte R.
Zdroj: In European Journal of Medical Genetics October 2022 65(10)
Databáze: ScienceDirect