ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
ATAD3A 相关小脑桥脑发育不全:新患者和对表型变异性的见解
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-023-02689-3
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova