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[Clinical and genetic analysis of a child 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 Aug 2026

Zhao Yong, Li Nuo, Han Yu, Li Nannan, Liu Qiuli, Fu Wenjie, Luo Guanjun, Chen Yizhao, Wang Nantian, Zhou Yuan, Qian Xuguang

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology of a child with Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS). METHODS: A child diagnosed with BVSYS at Foshan Nanhai District Maternal and Child Health Care Hospital in January 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples were collected from the child and his parents. Following...

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Whole Genome Sequencing

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PMID: 42386662
DOI: 10.3760/cma.j.cn511374-20250327-00185

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MED25
NONO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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