Original language | English |
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Pages (from-to) | 909-927 |
Number of pages | 0 |
Journal | American Journal of Human Genetics |
Volume | 109 |
Issue number | 5 |
Early online date | 5 May 2022 |
DOIs | |
Publication status | Published - 5 May 2022 |
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 Baptista
*Corresponding author for this work
- Université Paris Cité
- University College London
- Pôle mère enfant
- INSERM U1245; Rouen University Hospital
- Sorbonne Université
- Sultan Qaboos University
- Royal Devon & Exeter NHS Foundation Trust
- University Hospitals Bristol and Weston NHS Foundation Trust
- Groupe hospitalier Pellegrin
- Aix-Marseille Université
- Centre de l’Asthme et des Allergies Hôpital d’Enfants Armand-Trousseau (APHP)
Research output: Contribution to journal › Article › peer-review
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