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

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https://hal-amu.archives-ouvertes.fr/hal-03654319
Contributor : Christophe Pellegrino Connect in order to contact the contributor
Submitted on : Thursday, April 28, 2022 - 3:11:50 PM
Last modification on : Monday, May 16, 2022 - 3:33:56 AM

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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, Elsevier (Cell Press), 2022, ⟨10.1016/j.ajhg.2022.03.010⟩. ⟨hal-03654319⟩

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