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[Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant].

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

Ma Jian, Gao Junying, Zhang Kaihui, Lyu Yuqiang, Gao Min, Wang Dong, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia. METHODS: Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using...

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PMID: 31922594
DOI: 10.3760/cma.j.issn.1003-9406.2020.01.011

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