ArticleFrontiers in genetics2021
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Biallelic loss-of-function variants inJournal of medical genetics · 2025Article
- Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.Investigative ophthalmology & visual science · 2025Article
- Stargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.International journal of molecular sciences · 2025Review
- Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.Molecular genetics and genomics : MGG · 2024Article
- Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review.International journal of molecular sciences · 2024Review
- Stargardt macular dystrophy and therapeutic approaches.The British journal of ophthalmology · 2024Review
- Stargardt disease: Multimodal imaging: A review.Clinical & experimental ophthalmology · 2021Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients.
methodsThis retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of them. Targeted next-generation sequencing of the coding and splicing regions of
resultsWe found two or more disease-causing variants in the
conclusionThis study describes the phenotypic and genetic features of STGD1 in an Argentinean cohort. The mutations p.(Gly1961Glu) and p.(Arg1129Leu) were the most frequent, representing almost 20% of the mutated alleles. We also expanded the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.