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[Clinical and genetic analysis of a Chinese pedigree affected with MRXS34 syndrome due to variant of NONO gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2026

Chen Xintong, Xue Huiqin, Yue Hao, Ma Tianjiao, Gao Jingbo, Sun Xiayu, Guo Rong, Lu Hongyong, Wu Jianrui

Abstract excerpt

OBJECTIVE: To explore the clinical phenotypes and genetic etiology of a child with MRXS34 syndrome due to a variant of NONO gene. METHODS: A child patient who presented at Shanxi Provincial Maternity and Child Care Hospital on September 28, 2020 was selected as study subject. Clinical data of the child were retrospectively collected. Peripheral blood samples were collected from the child and his parents....

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Identifiers

PMID: 42342638
DOI: 10.3760/cma.j.cn511374-20250521-00315

Genes

NONO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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