Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation
隐性 PRDM13 突变会导致致命的围产期脑干功能障碍和小脑发育不全,并破坏浦肯野细胞分化
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.03.010
Marion Coolen, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, Emilia Puig Lombardi, Nadjeda Moreno, Giulia Barcia, Marianne Yvert, Annie Laquerrière, Aurore Pouliet, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Féréchté Razavi, Alexandra Afenjar, Thierry Billette de V