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

Marion Coolen*, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, Lombardi E Puig, Nadjeda Moreno, Giulia Barcia, Marianne Yvert, Annie Laquerrière, Aurore Pouliet, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Féréchté Razavi, Alexandra Afenjar, de Villemeur T Billette, Almundher Al-Maawali, Khalid Al-Thihli, Julia BaptistaAna Beleza-Meireles, Catherine Garel, Marine Legendre, Antoinette Gelot, Lydie Burglen, Sébastien Moutton, Vincent Cantagrel*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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Original languageEnglish
Pages (from-to)909-927
Number of pages0
JournalAmerican Journal of Human Genetics
Volume109
Issue number5
Early online date5 May 2022
DOIs
Publication statusPublished - 5 May 2022

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