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[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].

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

Li Yanqing, Wang Yuanbai, Jiang Yuying, Fu Wanyu, Tan Meihua, Zhuang Jianlong

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a neonate with suggestive features of Cornelia de Lange Syndrome (CdLS). METHODS: Chromosome karyotyping, copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the child. Meanwhile, peripheral venous blood samples were taken from his parents for verifying the suspected pathogenic variants detected in the child. RESULTS: The...

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PMID: 34729759
DOI: 10.3760/cma.j.cn511374-20200530-00400

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