Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation - Archive ouverte HAL Access content directly
Journal Articles American Journal of Human Genetics Year : 2022

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

Karine Siquier-Pernet
  • Function : Author

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hal-03654319 , version 1 (28-04-2022)

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Marion Coolen, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, et al.. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation. American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩. ⟨hal-03654319⟩
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