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[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].

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

Zhang Guangyu, Wang Mingmei, Chen Gongxun, Yang Lei, Li Sansong, Zhu Dengna

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability. METHODS: A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole...

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PMID: 37368386
DOI: 10.3760/cma.j.cn511374-20220520-00339

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