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[Analysis of TNPO3 gene variant and clinical phenotype in a neonate with limb-girdle muscular dystrophies form 1F].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2022

Gao Min, Hou Liangchao, Zhang Kaihui, Lyu Yuqiang, Ma Jian, Wang Dong, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a neonate featuring developmental delay. METHODS: Clinical examination and laboratory tests were carried out for the patient. Peripheral venous blood samples of the proband and his parents were extracted and subjected to target capture next generation sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The patient, a four-month-old male, has...

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PMID: 36082569
DOI: 10.3760/cma.j.cn511374-20210804-00649

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