ArticleMolecular syndromology2018
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.
Article in Molecular syndromology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Metal Dyshomeostasis as a Driver of Gut Pathology in Autism Spectrum Disorders.Journal of neurochemistry · 2025Pooled it
- Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.Epilepsia · 2026Article
- Shared genetic architecture between grip strength and cognitive function: insights from large-scale genome-wide cross-trait analysis.Frontiers in genetics · 2025Article
- High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.Journal of translational medicine · 2024Article
- Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.American journal of medical genetics. Part A · 2024Article
- Positive selection in noncoding genomic regions of vocal learning birds is associated with genes implicated in vocal learning and speech functions in humans.Genome research · 2021Article
- Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2020Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Interstitial deletions of chromosome 3p are rare, and specific genotype-phenotype correlations cannot always be assessed. We report the case of a 3p14.2 proximal microdeletion in a 60-year-old female patient with mild intellectual disability, severe speech delay, and mild dysmorphism. An array-CGH analysis detected a 500-kb deletion in the 3p14.2 region, including
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