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[Variant analysis and prenatal diagnosis for two Chinese pedigrees affected with Spinal muscular atrophy with respiratory distress type 1].

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

Li Huijun, Zhu Xiangyu, Yang Ying, Wu Xing, Li Jie

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of two children with Spinal muscular atrophy with respiratory distress type 1 (SMARD1), and prevent the recurrence of birth defects. METHODS: Two unrelated families who had visited the Obstetrics and Gynecology Medical Center of Drum Tower Hospital from August to November 2021 were selected as the study subjects. Copy number of SMN1 gene exon 7 for the probands and their...

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PMID: 38311554
DOI: 10.3760/cma.j.cn511374-20221223-00886

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