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

by Afenjar, A., Al-Maawali, A., Al-Thihli, K., Altin, N., Baptista, J., Barcia, G., Beleza-Meireles, A., Billette de Villemeur, T., Boddaert, N., Burglen, L., Cantagrel, V., Coolen, M., Garel, C., Gelot, A., Laquerrière, A., Legendre, M., Moreno, N., Moutton, S., Nitschké, P., Pereira, E., Pouliet, A., Puig Lombardi, E., Rajamani, K., Rausell, A., Razavi, F., Siquier-Pernet, K., Yvert, M.
Published 2022