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Article

[Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy].

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

Huang Wenchen, Bai Jinli, Wang Hong, Jin Yuwei, Peng Xiaoyin, Ge Xiushan, Jiao Hui, Qu Yujin, Song Fang

Abstract excerpt

OBJETIVE: To explore the characteristics of SMN1 gene variants and carry out functional verification for two children with Spinal muscular atrophy (SMA). METHODS: Two male children with complicated SMA diagnosed at the Children's Hospital Affiliated to Capital Institute of Pediatrics respectively in July 2021 and April 2022 due to delayed or retrograde motor development were selected as the study subjects....

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Identifiers

PMID: 39344612
DOI: 10.3760/cma.j.cn511374-20231017-00199

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