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Article

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

Gene - 10 May 2026

Qian Xueying, Zheng Yucan, Zhao Liqian, Liu Zhifeng, Hu Guorui

Abstract excerpt

Coffin-Siris syndrome 6 is a rare autosomal dominant genetic disorder characterized by short stature, intellectual disability, and distinctive facial features. In this study, we reported a child with Coffin-Siris syndrome 6 accompanied with liver cirrhosis, which was caused by a novel nonsense variant c.4771C > T in the ARID2 gene. This variant leads to the premature generation of a stop codon. In vivo experiment...

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Source

Identifiers

PMID: 41765118
DOI: 10.1016/j.gene.2026.150082

Genes

ARID2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.PMID 41765118Read ↗

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