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Article

[Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay].

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

Cong Yan, Wang Dong, Wang Hao, Xu Xia, Wu Ke

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child featuring hypotonia, ataxia, and delayed development syndrome (HADDS). METHODS: Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the child and his parents. RESULTS: The child was found to harbor a de novo heterozygous c.625G>A (p.Arg209Trp) variant of the EBF3 gene, which has caused substitution of...

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PMID: 36317217
DOI: 10.3760/cma.j.cn511374-20210221-00146

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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