ArticleFrontiers in pediatrics2025
Clinical and genetic characterization of
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.JIMD reports · 2026Article
- Clinical phenotype spectrum and prognostic analysis ofFrontiers in neurology · 2026Article
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Authors and funding
6 authors.
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Abstract
Objective: This study aimed to characterize the clinical and genetic spectrum of dynamin 1-like gene ( Methods: Clinical and genetic data from eleven Chinese patients with Results: A total of 66 cases were analyzed, including 11 newly reported Chinese patients and 55 previously published cases. The most common clinical manifestations were developmental delay (89.4%), epilepsy (66.7%), dystonia (53.0%), ataxia (21.2%), and failure to thrive (18.2%). Abnormal neuroimaging (80.3%) and electroencephalogram (EEG) abnormalities (78.0%) were also frequent. Domain-specific analyses demonstrated that, compared with GTPase domain variants ( Conclusion: This study provides the largest clinical and genetic characterization of
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