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[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].

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

Ge Lili, Kong Jinghui, Chen Chongfen, Xia Zhiyi, Mei Shiyue, Zhang Yaodong

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic etiology for seven children with CHARGE syndrome (CS). METHODS: Clinical data of seven children with CS diagnosed between March 2020 and December 2022 at the Children's Hospital Affiliated to Zhengzhou University were analyzed. Genomic DNA was extracted from peripheral blood samples from the children and their parents, and subjected to whole exome...

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PMID: 39217482
DOI: 10.3760/cma.j.cn511374-20230723-00012

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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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