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Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.

Scientific reports - 4 Dec 2020

Li Qun, Chang Guoying, Yin Lei, Li Juan, Huang Xiaodong, Shen Yongnian, Li Guoqiang, Xu Yufei, Wang Jian, Wang Xiumin

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder, which causes a range of physical, cognitive, and medical challenges. To retrospectively analyze the clinical characteristics and genetic variations of Chinese patients, and to provide experience for further diagnosis and treatment of CdLS in Chinese children, we identified 15 unrelated Chinese children who presented with unusual facial features, short...

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Identifiers

PMID: 33277604
DOI: 10.1038/s41598-020-78205-5
PMCID: PMC7718889

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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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