ArticleCureus2025
A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report.
Article in Cureus, 2025. 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.
- Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.AME case reports · 2026Article
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4 authors.
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Abstract
Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by underdeveloped toenails or fingernails, developmental delays, and intellectual disability, among other characteristics. The clinical manifestations can vary significantly. We present a case involving a Saudi girl who had global developmental delay, hypertrichosis, and subtle dysmorphic traits since birth but remained undiagnosed until the age of nine. A novel pathogenic heterozygous variant c.1314del p.(Glu439Serfs*63) in the ARID1B gene was identified through whole-exome sequencing (WES). Consequently, she was referred to a multidisciplinary team that managed her symptomatically. This case exemplifies the necessity of considering the syndrome in patients exhibiting developmental delays and unusual features such as hypertrichosis. Furthermore, this study highlights the importance of utilizing advanced medical technologies, such as WES, for timely diagnosis and effective management.
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