ArticleFrontiers in genetics2024
Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by
Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Genome medicine · 2026Article
- Article
- The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia.International journal of women's health · 2026Article
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9 authors.
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Abstract
Background: Snijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocephaly, and global developmental delay (GDD) caused by mutations in Methods: We utilized whole-exome sequencing, Results: We identified a non-frameshift variant c.3592_c.3606delGCCAAGAGAAAGATG, a splice site variant c.1708-1G>T, and two missense variants, c. 2954G>C (p.Arg985Pro) and c.3371C>T (p.A1124V), in Conclusion: Our findings have expanded the spectrum of genetic variants and clinical features in children with SNIBCPS. Splicing analysis of
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