Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.
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C. Garel | N. Boddaert | J. Baptista | A. Afenjar | A. Laquérriere | P. Nitschké | A. Rausell | A. Gelot | S. Moutton | T. Billette de Villemeur | A. Beleza-Meireles | G. Barcia | A. Al-Maawali | M. Coolen | L. Burglen | M. Legendre | F. Razavi | Khalid Al-Thihli | V. Cantagrel | K. Siquier-Pernet | Aurore Pouliet | Karthyayani Rajamani | Nami Altin | E. Puig Lombardi | N. Moreno | E. Pereira | Marianne Yvert | K. Al-Thihli | A. Beleza‐Meireles
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