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
A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Fan P et al.
Pediatric Research, 2023
Long term follow-up in two siblings with Sengers syndrome: Case report.
Panicucci C et al.
Italian Journal of Pediatrics, 2022
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
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
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
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A et al.
Orphanet Journal of Rare Diseases, 2014
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