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[Analysis of clinical phenotype and pathogenic variant of a fetus with Cornelia de Lange syndrome type II].

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

Huang Hailong, Hou Jiaru, Zhou Yangzi, Liu Caixia, Lyu Yuan

Abstract excerpt

OBJECTIVE: To explore the prenatal ultrasonographic features and genetic basis for an abortus suspected for type II Cornelia de Lange syndrome (CdLS2). METHODS: A fetus diagnosed with CdLS2 at the Shengjing Hospital Affiliated to China Medical University on September 3, 2019 was selected as the study subject. Clinical data of the fetus and family history was collected. Following induced labor, whole exome...

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Identifiers

PMID: 37102291
DOI: 10.3760/cma.j.cn5113874-20220515-00328

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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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