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[Genetic analysis of two children patients affected with CHARGE syndrome].

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

Li Guoqiang, Li Niu, Xu Yufei, Li Juan, Ding Yu, Shen Yiping, Wang Xiumin, Wang Jian

Abstract excerpt

OBJECTIVE: To analyze two Chinese pediatric patients with multiple malformations and growth and development delay. METHODS: Both patients were subjected to targeted gene sequencing, and the results were analyzed with Ingenuity Variant Analysis software. Suspected pathogenic variations were verified by Sanger sequencing. RESULTS: High-throughput sequencing showed that both patients have carried heterozygous...

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CHARGE Syndrome
DNA-Binding Proteins
DNA Helicases
CHD7 gene
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

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Identifiers

PMID: 29653002
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.022

Genes

CHD7

Variants

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