ArticleHuman genome variation2024
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.
Article in Human genome variation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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
1 citing paper in PubMed.
- Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3-3B) Gene.Movement disorders clinical practice · 2026Article
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Authors and funding
12 authors.
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Abstract
Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized by mild to severe developmental delay, intellectual disability, failure to thrive, muscle tone abnormalities, and dysmorphic facial features. Here, we present a Japanese patient with a novel heterozygous p.A48G variant in H3F3A, displaying previously unrecognized symptoms of neonatal myoclonus. This case helps broaden the phenotypic spectrum of BLBS.
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Registered trials
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