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[Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18].

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

Ding Zhe, Mei Shiyue, Zhang Bo, Kong Jinghui, Liu Lei, Zhang Zhenhua, Wang Chaojie, Zhang Yaodong

Abstract excerpt

OBJECTIVE: To clarify the genetic diagnosis of two children with ring chromosome 18 and explore their mechanisms and clinical phenotypes. METHODS: Two patients treated at the Children's Hospital of Henan Province respectively in June 2022 and March 2023 were selected as the study subjects. Genetic testing and diagnosis were carried out through copy number variation sequencing (CNV-seq), G-banded chromosomal...

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Identifiers

PMID: 39217492
DOI: 10.3760/cma.j.cn511374-20230626-00389

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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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