Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene

Autor: Waterham, Hans R., Koster, Janet, Ebberink, Merel S., Ješina, Pavel, Zeman, Jiri, Nosková, Lenka, Kmoch, Stanislav, Devic, Perrine, Cheillan, David, Wanders, Ronald J.A., Ferdinandusse, Sacha
Zdroj: In Genetics in Medicine November 2023 25(11)
Databáze: ScienceDirect