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[Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2023

Li Yuke, Wang Xiaona, Liu Mengyuan, Gao Yang, Chen Baiyun, Mei Daoqi, Zhang Huichun, Gao Chao

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS). METHODS: A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital 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 the extraction of genomic DNA, which was subjected to...

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PMID: 36972932
DOI: 10.3760/cma.j.cn511374-20221108-00768

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