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[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

Zhao Lei, Zhang Qinghua, Zhou Bingbo, Zhang Chuang, Zheng Lei, Wang Yupei, Hao Shengju, Hui Ling

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and results of genetic testing in three children with Cornelia de Lange syndrome (CdLS). METHODS: Clinical data of the children and their parents were collected. Peripheral blood samples of the pedigrees were collected for next generation sequencing analysis. RESULTS: The main clinical manifestations of the three children have included growth delay, mental retardation,...

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Identifiers

PMID: 36584992
DOI: 10.3760/cma.j.cn511374-20220125-00067

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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