ArticleCase reports in genetics2024
Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis.
Article in Case reports in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- Editorial: Advances in DYRK1A syndrome: underlying mechanisms, disease models, and novel therapeutic approaches.Frontiers in neuroscience · 2026Article
- Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.Frontiers in genetics · 2026Article
Corrections and comments
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Authors and funding
2 authors.
Funding
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Abstract
Dual-specificity tyrosine kinase 1A (DYRK1A) is a member of the CMGC family that is linked to a multitude of neuronal development pathways. Both overexpression and insufficiency of this gene are associated with many recognizable disorders, including Down syndrome and DYRK1A-related intellectual disability syndrome which is characterized by distinct physical features with microcephaly and global developmental delay. We report a case of DYRK1A-related intellectual disability syndrome caused by a novel mutation.
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Registered trials
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