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[Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene].

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

Xiao Mengjun, Wang Fangjie, Li Yingying, Yao Xiaoli, Hou Weina, He Kun

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and pathogenic variant in a child with Cantú syndrome (CS). METHODS: A male who was admitted to the Children's Hospital Affiliated to Zhengzhou University on February 23, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole-exome sequencing...

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Identifiers

PMID: 39344622
DOI: 10.3760/cma.j.cn511374-20230616-00366

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