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
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Fan P et al.
Pediatric Research, 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
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
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
The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.
Gillespie RL et al.
Human Heredity, 2014
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
Siriwardena K et al.
Molecular Genetics and Metabolism, 2013
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
Aldahmesh MA et al.
Human Mutation, 2012