Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: A case report

Auriane Mouchez(Hôpital de la Timone), Alexandre Fabre(Aix-Marseille Université), Béatrice Desnous(Inserm), Célia Hoebeke(Laboratoire National de Référence), Radia Fritih(Hôpital de la Timone), Aline Cano(Laboratoire National de Référence)

European Journal of Medical Genetics

January 20, 2025

10.1016/j.ejmg.2025.104996

Cited by 0

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