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[Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene].

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

Bai Zhouxian, Liu Lina, Hu Shuang, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria. METHODS: Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity of the candidate variant was...

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PMID: 31922591
DOI: 10.3760/cma.j.issn.1003-9406.2020.01.008

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