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Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct 15; 22(10): 1131–1134.
PMCID: PMC7569005

Language: Chinese | English

CHAMP1 基因新发突变致常染色体显性智力障碍40型1例

Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report

王 明梅

郑州大学第三附属医院儿童康复科, 河南 郑州 450052, Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

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朱 登纳

郑州大学第三附属医院儿童康复科, 河南 郑州 450052, Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

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李 三松

郑州大学第三附属医院儿童康复科, 河南 郑州 450052, Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

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张 广宇

郑州大学第三附属医院儿童康复科, 河南 郑州 450052, Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

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杨 磊

郑州大学第三附属医院儿童康复科, 河南 郑州 450052, Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

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赵 云霞

郑州大学第三附属医院儿童康复科, 河南 郑州 450052, Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China

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刘 汉友

郑州大学第三附属医院儿童康复科, 河南 郑州 450052, Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China 郑州大学第三附属医院儿童康复科, 河南 郑州 450052, Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China