Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

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, Férechté Razavi, Alexandra Afenjar, Thierry Billette de Villemeur, Almundher Al‐Maawali, Khalid Al‐Thihli, Júlia Baptista, Ana Beleza‐Meireles, Cathérine Garel, Marine Legendre, A. Gélot, Lydie Bürglen, Sébastien Moutton, Vincent Cantagrel