Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation Marion Coolen , Nami Altin , Karthyayani Rajamani , Eva Pereira , Karine Siquier-pernet , Maria Emilia Puig-Lombardi , Nadjeda Morenoo , Giulia Barcia , Marianne Yvert , Annie Laquerriere , Aurore Pouliet , Patrick Nitschke , Nathalie Boddaert , Antonio Rausell , Ferechte Razavi , Alexandra Afenjar , Thierry Billette De Villemeur , Almundher Al-Maawali , Khalid Al-Thihli , Julia Baptista , Ana Beleza-Meireles , Marine Legendre , Antoinette Gelot , Lydie Bur-Glen , Sebastien Moutton , Vincent Cantagrel EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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