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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

Published Online: 2020-04-15

Published Print: 2020-12

Authors

Trimouille, Aurélien

Marguet, Florent

Sauvestre, Fanny

Lasseaux, Eulalie

Pelluard, Fanny

Martin-Négrier, Marie-Laure

Plaisant, Claudio

Rooryck, Caroline

Lacombe, Didier

Arveiler, Benoît

Boespflug-Tanguy, Odile

Naudion, Sophie

Laquerrière, Annie
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Article History

Received: 24 February 2020

Accepted: 3 April 2020

First Online: 15 April 2020

Ethics approval and consent to participate

: Autopsies and genetic analyses were performed after appropriate informed consent was obtained from the parents who provided informed consent for publication.

: The authors have no competing interest to declare.

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