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[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2020

Ma Yanyan, Yu Chunmei, Zhang Kaihui, Jin Ruifeng, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a girl featuring epilepsy, speech delay and mild mental retardation. METHODS: Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted and subjected to next generation sequencing. Suspected variant was confirmed by Sanger sequencing. RESULTS: The child was found to carry a de novo heterozygous c.3592G>A (p.V1198M) variant of the...

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Identifiers

PMID: 32034741
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.011

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