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[Genetic testing and genotype-phenotype analysis for a child with X-linked hypohidrotic ectodermal dysplasia].

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

Wang Jianbo, Liang Mingyu, Dou Jinfa, Shao Yi, Wang Chen, Li Ming, Zhang Shoumin, Li Zhenlu

Abstract excerpt

OBJECTIVE: To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation. METHODS: Clinical data of the patient was collected. Peripheral blood samples were taken from the patient, his parents and 100 unrelated healthy controls. Genetic variants were detected by using next-generation sequencing using a skin-disease panel...

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PMID: 34096025
DOI: 10.3760/cma.j.cn511374-20200622-00464

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