Associated Papers
Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.
Gong X et al.
Frontiers in Pediatrics, 2026
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW et al.
Molecular Genetics and Metabolism, 2023
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Barbosa-Gouveia S et al.
International Journal of Molecular Sciences, 2021
34948281 (PubMed )
Supplement: ijms-22-13484-s001.zip › ijms-1495764-supplementary.pdf
Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene.
Wang B et al.
Frontiers in Pediatrics, 2021
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Guleray N et al.
Fetal and Pediatric Pathology, 2020
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Allali S et al.
Metabolic Brain Disease, 2017
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