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[Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2021

Lyu Yuan, Liu Caixia, Li Chuang, Li Huan, Li-Ling Jesse, Li Meihui

Abstract excerpt

OBJECTIVE: To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS). METHODS: History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried...

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Identifiers

PMID: 33423262
DOI: 10.3760/cma.j.cn511374-20191118-00590

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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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