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

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作者： Auriane,Mouchez ^[1] ; Célia,Hoebeke ^[2] ; Béatrice,Desnous ^[3] ; Aline,Cano ^[2] ; Radia,Fritih ^[4] ; Alexandre,Fabre ^[5]

作者单位： APHM, Timone Enfant, Service de Pédiatrie Multidisciplinaire, Marseille, France. ^[1] APHM, Timone Enfant, Reference Center for Inherited Metabolic Diseases, Marseille, France. ^[2] APHM, Timone Enfant, Department of Pediatric Neurology, Marseille, France. ^[3] APHM, Timone, Department of Pathology and Neuropathology, Marseille, France. ^[4] APHM, Timone Enfant, Service de Pédiatrie Multidisciplinaire, Marseille, France; Aix Marseille Univ, INSERM, MMG, Marseille, France. Electronic address: alexandre.fabre@ap-hm.fr. ^[5]

关键词 Cholestasis EARP Epilepsy Microcephaly Neurodevelopmental delay Transaminitis VPS53

DOI 10.1016/j.ejmg.2025.104996

PMID 39842660

发布时间 2025-02-01

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European journal of medical genetics

2025年74卷

104996页

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

European journal of medical genetics

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European journal of medical genetics

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

European journal of medical genetics

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European journal of medical genetics

相关期刊

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