[Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].

doi:10.3760/cma.j.cn511374-20221031-00733

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[Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Niu Shasha, Ma Yanyan, Lyu Yuqiang, Xin Hongmei, Wang Dong, Wang Yanxin, Yang Ya'nan, Li Zilong, Liu Yi, Gai Zhongtao

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease. METHODS: A child who was admitted to the Children's Hospital Affiliated to Shandong University on April 9, 2021 for inability to uphold his head for 2 months and increased muscle tone for one week was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing. RESULTS:...

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PMID: 38311564
DOI: 10.3760/cma.j.cn511374-20221031-00733

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