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Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.

Molecular genetics & genomic medicine - 1 Jan 2024

Peng Yin, Zhu Ying, Wu Lin, Deng Fang

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is mainly characterized by specific facial features, growth retardation, and bone deformities. Seven genes reportedly cause CdLS. Recent research has reported that loss-of-function variants affecting MAU2, which encodes a regulator of the cohesin complex, can cause CdLS. Thus far, only one MAU2-CdLS case has been reported worldwide. METHODS: We detected a novel...

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PMID: 37962004
DOI: 10.1002/mgg3.2318
PMCID: PMC10767608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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