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[Clinical and genetic analysis of a case of Triadin knockout syndrome due to variant of TRDN gene and a literature review].

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

Li Huan, Yang Ying, Wang Po, Xiao Hongyu, Yang Guang, Zhang Yanmin, Wang Juanli

Abstract excerpt

OBJECTIVE: To explore the genetic etiology and clinical phenotype of a child with Triadin knockout syndrome (TKOS), and to review the relevant literature of TKOS patients due to variants of TRDN gene. METHODS: A child who was admitted to the Children's Hospital of Xi'an Jiaotong University on March 19, 2023 due to sudden cardiac arrest 3 days earlier was selected as the study subject. Peripheral blood samples (2...

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PMID: 39528282
DOI: 10.3760/cma.j.cn511374-20231216-00328

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