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[Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

He Fengjuan, Xu Shenjian, Li Qiwen, Jiang Mengting, Mao Xiuzhen

Abstract excerpt

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with Alazami syndrome. METHODS: Genomic DNA was extracted for 2 patients and 2 unaffected members from the pedigree. Whole exome sequencing was carried out to detect potential variant in the proband, and the result was verified by Sanger sequencing. RESULTS: The proband and her sister were both found to harbor compound heterozygous...

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PMID: 36184089
DOI: 10.3760/cma.j.cn511374-20210909-00735

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