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[Clinical and genetic analysis of a patient with cutis laxa].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2018

Zhang Pingping, Wang Xin, Gao Zhijie, Liu Xiaoyan, Chen Qian

Abstract excerpt

OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Suspected mutations were verified by Sanger sequencing. RESULTS Exome sequencing identified a compound heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29419872
DOI: 10.3760/cma.j.issn.1003-9406.2018.01.023

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