ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Autor: Skopkova, Martina1 (AUTHOR), Stufkova, Hana2 (AUTHOR), Rambani, Vibhuti1 (AUTHOR), Stranecky, Viktor3 (AUTHOR), Brennerova, Katarina4 (AUTHOR), Kolnikova, Miriam5 (AUTHOR), Pietrzykova, Michaela6 (AUTHOR), Karhanek, Miloslav1 (AUTHOR), Noskova, Lenka3 (AUTHOR), Tesarova, Marketa2 (AUTHOR), Hansikova, Hana2 (AUTHOR), Gasperikova, Daniela1 (AUTHOR) daniela.gasperikova@savba.sk
Zdroj: Orphanet Journal of Rare Diseases. 4/24/2023, Vol. 18 Issue 1, p1-12. 12p.
Databáze: Academic Search Ultimate
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