Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

Autor: Ignatius, Erika, Puosi, Riina, Palomäki, Maarit, Forsbom, Noora, Pohjanpelto, Max, Alitalo, Tiina, Anttonen, Anna-Kaisa, Avela, Kristiina, Haataja, Leena, Carroll, Christopher J., Lönnqvist, Tuula, Isohanni, Pirjo
Zdroj: In European Journal of Paediatric Neurology March 2022 37:1-7
Databáze: ScienceDirect