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[Clinical and genetic analysis of three children with Hyperekplexia].

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

Han Rui, Zhang Xiaoli, Jia Tianming, Xu Dan, Gan Ling

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of three children with Hyperekplexia. METHODS: Three children who were diagnosed with Hyperekplexia at the Third Affiliated Hospital of Zhengzhou University between June 2018 and March 2020 were selected as the study subjects. Clinical data of the three children were collected. All children were subjected to whole exome sequencing. Pathogenicity of...

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PMID: 38818557
DOI: 10.3760/cma.j.cn511374-20211125-00938

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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