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[Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type ⅢA].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2023

Zuo Hanheng, Li Yinping, Cui Yinghua, Zhang Jinguo, Shen Caiyun, Zhu Wenya, Du Chunlei

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a patient with hypertrophic cardiomyopathy as the initial manifestation of Mucopolysaccharidosis type Ⅲ A (MPS Ⅲ A). METHODS: A female patient with MPS Ⅲ A who was admitted to the Affiliated Hospital of Jining Medical University in January 2022 and her family members (seven individuals from three generations) were selected as the study subjects....

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PMID: 36972941
DOI: 10.3760/cma.j.cn511374-20221107-00766

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