ArticleGenes2023
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.
Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 13 citations in OpenAlex.
- Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.Molecular genetics & genomic medicine · 2026Review
- "We've done our due diligence": Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition.European journal of human genetics : EJHG · 2026Article
- Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants.QJM : monthly journal of the Association of Physicians · 2026Observational
- Three pediatric patients with dual rare genetic diagnoses: genetic and clinical findings.American journal of translational research · 2026Article
- Article
- Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies.Journal of clinical medicine · 2025Article
- Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service.Orphanet journal of rare diseases · 2025Article
- Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.Molecular syndromology · 2025Article
- Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs Syndrome.Molecular genetics & genomic medicine · 2025Article
- Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.American journal of medical genetics. Part A · 2025Article
- Clinical and genetic characteristics associated with dual-positive gene variations.Frontiers in neuroscience · 2025Article
- Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case.Case reports in immunology · 2025Article
- Article
- Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A).World journal of surgical oncology · 2024Article
- The congenital muscular dystrophies.Annals of the Child Neurology Society · 2024Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to biallelic sequence variants in a gene associated with an autosomal recessive disorder. We diagnosed the simultaneous presence of these conditions, which co-occurred by chance, in three unrelated patients: a 10q11.22q11.23 microduplication and a homozygous variant, c.3470A>G (p.Tyr1157Cys), in the
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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 Socratic graph.