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Article

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.

BMC medical genomics - 5 Nov 2024

Bai Guibin, Yuan Rougang, Yuan Jian, Liu Yanqin, Zhao Shaozhi, Zhang Xinwen

Abstract excerpt

BACKGROUND: Coffin-Siris syndrome is a clinically elusive and rare genetic disease characterized by a wide range of clinical manifestations. This study deeply analyzed and identified the clinical phenotype and genetic variant location in a pediatric patient with Coffin-Siris syndrome, aiming to enhance the understanding of this syndrome and assist in its screening and diagnosis. METHODS: A combination of advanced...

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Identifiers

PMID: 39501269
DOI: 10.1186/s12920-024-02036-w
PMCID: PMC11539493

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