ArticleJournal of pediatric genetics2018
An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome.
Article in Journal of pediatric genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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.
The trial behind it
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.Molecular syndromology · 2025Article
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- Genetic and epigenetic mechanisms in the development of congenital heart diseases.World journal of pediatric surgery · 2021Review
- Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.Brain sciences · 2020Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report an interesting case of a male toddler with global developmental delay, dysmorphic facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent corpus callosum with large doubly committed ventricular septal defect (VSD) and 8p23.3p23.1 deletion and 8p23.1p11.1 interstitial duplication syndrome. In comparison to similar reports of 8p deletion and inverted duplication syndrome, the uniqueness of this report lies in the fact that the congenital heart defect occurred without the
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Registered trials
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