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[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2021

Tao Zhiyan, Lu Fang

Abstract excerpt

OBJECTIVE: To explore the genetic basis for three children patients with CHARGE syndrome. METHODS: The three children and their parents were subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing. RESULTS: All patients had ocular anomalies including microphthalmia, microcornea, lens opacity, and coloboma of iris, optic nerve, retina and choroid. And all were found to carry...

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PMID: 33423256
DOI: 10.3760/cma.j.cn511374-20200622-00461

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